Table 3 Recommendations and best practice statements for each topic
From: Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
Strength* | Level of evidence* | |
|---|---|---|
3. Neurological components of Friedreich ataxia | ||
3.1 Upper limb dysfunction | ||
Best practice statement | ||
At a minimum, annual comprehensive assessment of upper limb function should be conducted by a multidisciplinary team to optimize independence and minimize the effects of primary and secondary symptoms of Friedreich ataxia [16] | ||
Recommendations | ||
We conditionally recommend intensive upper limb rehabilitation for individuals with Friedreich ataxia in a clinical setting | ↑ | ⨁◯◯◯ |
We cannot recommend either the use or non-use of sensory specific training of the upper limbs for individuals with Friedreich ataxia in a clinical setting | – | ⨁◯◯◯ |
We conditionally recommend considering upper limb splinting/orthoses for individuals with Friedreich ataxia who experience spasticity, spasm or contracture | ↑ | ⨁◯◯◯ |
We recommend against the use of pharmacological agents (baclofen and botulinum toxin) for specific management of upper limb function in individuals with Friedreich ataxia experiencing spasticity and spasm | ↓↓ | ⨁◯◯◯ |
We conditionally recommend considering electrical stimulation (but not tDCS or TMS) for management of upper limb function in individuals with Friedreich ataxia in a clinical setting, with appropriate evaluation prior to treatment | ↑ | ⨁◯◯◯ |
3.2 Strength, balance, mobility and reduction of falls in ambulant individuals with Friedreich ataxia | ||
Best practice statements | ||
Gait aids should be considered for ambulant people with Friedreich ataxia who are at risk of, or fearful of falling. Individualized assessment is required to ensure the gait aid selected provides the support required to facilitate maximal independence but does not restrict available movement or reduce current balance capacity (due to over-dependence on the gait aid to stabilize) | ||
Several studies have highlighted the benefits of computer-based or video-based coordination/balance training for individuals with ataxia [17,18,19,20,21]. These papers highlight the importance of prescribing exercise programs that are enjoyable, motivating and sustainable | ||
Given the significant decline in balance evidence in individuals with Friedreich ataxia, suitably challenging balance exercises should be prescribed in all therapy programs | ||
Recommendations | ||
For individuals with Friedreich ataxia who are ambulant (with or without an aid), we recommend regular monitoring of ambulation and contributing physical and non-physical factors for mobility decline (such as balance, strength, lower limb spasticity and fear of falling) at least once per year over less regular or informal monitoring | ↑↑ | ⨁◯◯◯ |
For ambulant people with Friedreich ataxia, we recommend a multi-faceted rehabilitation approach (targeting multiple areas of impairment) over a single focused rehabilitation approach | ↑↑ | ⨁⨁⨁◯ |
For individuals with Friedreich ataxia who are ambulant, we recommend completing rehabilitation or exercises 3 days per week or more frequently over completing these exercises less than 3 days per week | ↑↑ | ⨁⨁⨁◯ |
We suggest cardiovascular and endurance exercise training be used over no cardiovascular exercise in ambulant individuals with Friedreich ataxia. Gradual onset and increase in the level of activity, with monitoring for any adverse symptoms, is likely to be a safe approach in those with and without cardiac abnormalities | ↑ | ⨁⨁⨁◯ |
We suggest lower limb strengthening over no lower limb strengthening in individuals with Friedreich ataxia who are ambulant. In most instances, lower limb strengthening should be one component of a whole exercise or rehabilitation program | ↑ | ⨁◯◯◯ |
We recommend ankle and foot strengthening and stretching in combination over no strengthening or stretching program in individuals with Friedreich ataxia who are ambulant | ↑↑ | ⨁◯◯◯ |
In individuals with Friedreich ataxia who are ambulant, we suggest customized orthotics (including lateral ankle support braces, ankle–foot-orthotics) over no orthotic devices when ankle joint kinematics are altered during gait and this has a significant impact on gait. It is important that orthotics are customized and fitted professionally to avoid complications, such as pressure ulcers and incorrectly altered ankle range of motion | ↑ | ⨁⨁◯◯ |
We cannot recommend either botulinum toxin injection or no pharmacological therapy for ambulant individuals with Friedreich ataxia with ankle or foot spasticity. In selected cases, botulinum toxin injection could be considered after weighing up the potential benefits and harms related to ambulation and dynamic standing balance and therapy-based treatments (such as physiotherapy) have been tried but have not been completely effective. Clinicians should discuss potential negative effects and ensure the individual is aware of the risks prior to this treatment | – | ⨁◯◯◯ |
3.3 Strength, balance, mobility and reduction of falls in non-ambulant individuals with Friedreich ataxia | ||
Best practice statements | ||
Facilitating ambulant mobility for as long as possible is advantageous to the overall health and well-being of the individual with FRIEDREICH ATAXIA [22]. During and after transition to full-time wheelchair use, it is essential that individuals with Friedreich ataxia maintain the capacity to transfer safely and independently for as long as possible, particularly as length of time since disease onset and time since full-time wheelchair use have been shown to be major indicators for severe deformity requiring intervention [23] | ||
Core stability, defined as abdominal, gluteal, hip girdle, paraspinal, and other muscles working in concert to provide spinal stability, is imperative for initiation of functional limb movements. Any weakness or reduced motor control of these muscles can impact on a person’s ability to mobilize and balance effectively and independently [24, 25]. People with Friedreich ataxia tend to have weakness in the core stability muscles which then causes problems with balance that can affect their ability to mobilize [26]. Although there is no evidence directly examining core stability in individuals with Friedreich ataxia, numerous studies have found beneficial effects on trunk control and sitting and standing balance in stroke survivors [27, 28]. Therefore, therapy for non-ambulant individuals should include core stability training as one component of their overall program | ||
Individuals who require a wheelchair for mobility should have these prescribed and customized by a trained clinician. Sensory loss, reduced mobility, scoliosis, diabetes and impaired balance need to be factored into the design and materials chosen to maximize function and minimize falls and pressure area injuries | ||
Recommendations | ||
For individuals with Friedreich ataxia who are no longer ambulant, we recommend regular monitoring of mobility (including ability to transfer) and contributing physical factors for mobility decline (such as balance, strength, lower limb spasticity and environment set-up) at least once per year over less regular or informal monitoring | ↑↑ | ⨁◯◯◯ |
For individuals with Friedreich ataxia who are no longer ambulant, we conditionally recommend standing and sitting balance exercises over no balance exercises. Balance exercises should be individually tailored to address each person’s specific impairments and functional goals and minimize risk of falls or fatigue | ↑ | ⨁◯◯◯ |
We conditionally recommend lower limb strengthening over no lower limb strengthening for individuals with Friedreich ataxia who are no longer ambulant | ↑ | ⨁◯◯◯ |
We recommend upper limb strengthening versus no upper limb strengthening in individuals with Friedreich ataxia who are no longer ambulant. Caution should be taken to not ‘over-exercise’, especially when there is reliance on the upper limbs to transfer or mobilize | ↑↑ | ⨁◯◯◯ |
We conditionally recommend cardio-pulmonary exercise over no cardio-pulmonary exercise in individuals with Friedreich ataxia who are no longer ambulant. Gradual onset and increase in the level of activity, with monitoring for any adverse symptoms, is likely to be a safe approach in those with and without cardiac abnormalities | ↑ | ⨁◯◯◯ |
We conditionally recommend botulinum toxin injections, stretching, and prescription of ankle–foot orthoses for individuals with Friedreich ataxia who are no longer ambulant and who have spasticity and reduced length of the calf muscles. A comprehensive physiotherapy and medical assessment of impairments, mobility status and patient goals should be done to determine the appropriateness of this treatment | ↑ | ⨁◯◯◯ |
3.4 Spasticity and spasms in Friedreich ataxia | ||
Best practice statements | ||
People with Friedreich ataxia benefit from assessment for spasticity, pain and spasms (including nocturnal spasms) and incipient or established contracture. This will guide treatment | ||
Aggravating factors such as infection, pain, constipation, diarrhea, dehydration and pressure sores should be considered and treated in the context of acute onset or exacerbation of spasticity and/or ataxia | ||
Individuals with Friedreich ataxia, families and caregivers should be educated to monitor the development of spasticity and incipient contractures | ||
On implementation of an anti-spasticity intervention, individuals with Friedreich ataxia may benefit from reassessment as the treatment of spasticity can unmask weakness and cause deterioration in gait and standing transfers. Individuals should be warned of this phenomenon before anti-spasticity interventions are commenced | ||
Recommendations | ||
We suggest non-pharmacological (physiotherapy) treatment, such as strengthening and stretching, should be used as a first option in the management of spasticity (and its secondary consequences such as mobility decline), prior to considering pharmacological interventions for individuals with Friedreich ataxia with spasticity. We suggest physiotherapy/rehabilitation interventions (such as strengthening, stretching, serial casting and standing machine stretch) are used to enhance the effects of pharmacological therapy for management of spasticity in individuals with Friedreich ataxia. This should occur when non-pharmacological treatment alone does not address the individual’s problems and/or treatment goals | ↑ | ⨁⨁◯◯ |
We suggest local pharmacological (i.e. injection of botulinum toxin) management of spasticity for individuals with Friedreich ataxia over no local spasticity management in the following circumstances: a thorough assessment is conducted to weigh up the negative and positive effects of this intervention; spasticity is significantly affecting mobility, function, pain or positioning, and conservative treatment options (such as physiotherapy) are no longer effective | ↑ | ⨁◯◯◯ |
We conditionally recommend offering systemic pharmacotherapy (baclofen, tizanidine, gabapentin, dantrolene sodium, benzodiazepines, other) for the management of generalized spasticity and spasms in individuals with Friedreich ataxia, with a view to reducing the severity of spasticity and the frequency of spasms and cramps, which may improve mobility and upper limb function and reduce pain | ↑ | ⨁◯◯◯ |
We cannot recommend either the use or non-use of systemic pharmacotherapy (non-licensed: cannabis, other) to manage spasticity and spasms/cramps in people with Friedreich ataxia | – | ⨁◯◯◯ |
We conditionally recommend against the use of neuromodulation for the treatment of spasticity in individuals with Friedreich ataxia | ↓ | ⨁◯◯◯ |
3.5 Dysarthria in Friedreich ataxia | ||
Best practice statement | ||
In the absence of strong evidence supporting widespread adoption of treatment for speech problems, interventions to improve the communication skills of listeners (i.e. communication partners of speakers with ataxia) could be incorporated into care plans. These include focused attention during conversations, communicating in quiet environments, and identification of strategies to ameliorate communication breakdowns, with practice of the strategies in a supportive environment | ||
Recommendations | ||
For people with Friedreich ataxia, we suggest the use of targeted intensive behavioral therapy for improving speech in individuals with dysarthria | ↑ | ⨁⨁◯◯ |
We cannot recommend either the use or non-use of augmentative and alternative communication (AAC) to treat dysarthria in individuals with Friedreich ataxia | – | ⨁◯◯◯ |
For people with Friedreich ataxia, we suggest that pharmaceutical therapies are not used to treat dysarthria | ↓ | ⨁◯◯◯ |
3.6 Dysphagia in Friedreich ataxia | ||
Best practice statement | ||
Individuals with Friedreich ataxia who are experiencing difficulties in swallowing should be offered detailed expert counselling on dysphagia management strategies, with a focus on the specificities and mechanisms of dysphagia in degenerative ataxia, as well as their impact on the individual and their friends and families | ||
Recommendations | ||
For people with Friedreich ataxia, the guidelines panel suggests that behavioral therapies are not used as a treatment for dysphagia | ↓ | ⨁◯◯◯ |
For people with Friedreich ataxia, the guidelines panel suggests employing some compensatory strategies for improving swallowing safety in people with dysphagia | ↑ | ⨁◯◯◯ |
For people with Friedreich ataxia, we cannot recommend either modified diets/thickened fluids or no diet modification to improve swallow safety | – | ⨁◯◯◯ |
For people with Friedreich ataxia, the guidelines panel suggests neuromuscular electrical stimulation is not used as a treatment for dysphagia | ↓ | ⨁◯◯◯ |
3.7 Vision in Friedreich ataxia | ||
Best practice statement | ||
Individuals with Friedreich ataxia with vision worse than 20/200 in each eye should be evaluated by a low vision specialist | ||
Recommendations | ||
We suggest standard treatments for visual impairment that is unrelated to Friedreich ataxia be used as appropriate in individuals with Friedreich ataxia. There is insufficient evidence to recommend the use of medications over conservative therapy for visual impairment unrelated to Friedreich ataxia in individuals with Friedreich ataxia | – | ⨁◯◯◯ |
We suggest standard treatments for optic neuropathy be used as appropriate in individuals with Friedreich ataxia. There is insufficient evidence to recommend the use of medications over conservative therapy for optic neuropathy in individuals with Friedreich ataxia | – | ⨁◯◯◯ |
We suggest standard treatments for optic radiation lesions be used as appropriate in individuals with Friedreich ataxia. There is insufficient evidence to recommend the use of medications over conservative therapy for optic radiation lesions in individuals with Friedreich ataxia | – | ⨁◯◯◯ |
We suggest standard treatments for diabetic retinopathy be used as appropriate in individuals with Friedreich ataxia. There is insufficient evidence to recommend the use of medications over laser treatment for diabetic retinopathy in Friedreich ataxia | – | ⨁◯◯◯ |
3.8 Lower urinary tract and bowel function in Friedreich ataxia | ||
Best practice statements | ||
Exclusion of a concomitant urinary tract infection and assessment of post micturition residual urine is recommended prior to commencement of treatment [29, 30] | ||
Antimuscarinic medications may be considered for people with Friedreich ataxia displaying overactive bladder symptoms | ||
Intradetrusor injections of botulinum toxin A or suprapubic catheterization may be considered as alternative intervention | ||
In a patient with persistently elevated post void residual volumes in excess of 100 mL, clean intermittent self-catheterization is indicated | ||
Consider modifying diet and lifestyle to optimize stool consistency and avoid fecal incontinence | ||
Titrate appropriate laxatives to optimize gut transit, stool consistency and avoid fecal impaction. Consider the use of prokinetic drugs | ||
Avoid fecal incontinence by treating fecal impaction if present. Facilitate prompt rectal evacuation via use of manual maneuvers, use of suppositories/mini enemas. Consider use of transanal irrigation and biofeedback behavioral therapy | ||
Recommendations | ||
We conditionally recommend that clinicians enquire about the presence of lower urinary tract (LUT) symptoms when consulting individuals with Friedreich ataxia | ↑ | ⨁◯◯◯ |
We conditionally recommend that individuals with Friedreich ataxia reporting LUT symptoms have their post-void residual bladder volume measured | ↑ | ⨁◯◯◯ |
We conditionally recommend consideration of a trial of antimuscarinic agents in individuals with Friedreich ataxia with LUT symptoms reporting urinary storage symptoms | ↑ | ⨁◯◯◯ |
We conditionally recommend individuals with Friedreich ataxia in urinary retention undergo intermittent catheterization prior to insertion of an indwelling catheter, with suitability for catheterization dependent on their neurological abilities | ↑ | ⨁◯◯◯ |
We suggest use of non-antibiotic agents, and if unsuccessful, antibiotic prophylactic agents over no antibiotic prophylaxis for the management of recurrent urinary tract infections (UTIs) in individuals with Friedreich ataxia | ↑ | ⨁◯◯◯ |
We conditionally recommend that clinicians enquire about the presence of bowel symptoms when consulting individuals with Friedreich ataxia | ↑ | ⨁◯◯◯ |
3.9 Sexual function in Friedreich ataxia | ||
Best practice statement | ||
Sexual dysfunction in individuals with Friedreich ataxia can have a profound effect on quality of life. Evaluation of sexual function should form part of the routine care of an individual with Friedreich ataxia | ||
Recommendations | ||
We recommend clinicians enquire about sexual function, including but not limited to erectile or vaginal lubrication dysfunction, the physical capacity to engage in sexual activity and the psychological aspect of the sexual response in sexually active individuals with Friedreich ataxia | ↑↑ | ⨁◯◯◯ |
We cannot recommend either counseling or no counseling to improve quality of life, self-esteem, management of physical or sensory impairment compromising sexual function, or intimate relationships in sexually active people with Friedreich ataxia reporting sexual dysfunction | – | ⨁◯◯◯ |
We recommend commencing a phosphodiesterase-5 inhibitor in males with Friedreich ataxia who report erectile dysfunction | ↑↑ | ⨁◯◯◯ |
We recommend not commencing a course of natural estrogen in sexually active females with inadequate vaginal lubrication with Friedreich ataxia | ↓↓ | ⨁◯◯◯ |
We cannot recommend either testing morning serum testosterone or not measuring morning serum testosterone in all sexually active men with Friedreich ataxia reporting sexual dysfunction; however, we suggest morning serum total testosterone should only be tested in males with Friedreich ataxia with clinically suspected hypogonadism, or if first-line treatment of erectile dysfunction is unsuccessful | – | ⨁◯◯◯ |
3.10 Auditory and vestibular function in Friedreich ataxia | ||
Best practice statement | ||
Assessment of auditory and vestibular function should form part of the standard Friedreich ataxia management protocol. Each individual should be evaluated on an annual basis or more regularly if the individual notices a change in auditory performance or balance | ||
Recommendations | ||
We recommend that all individuals with Friedreich ataxia undergo auditory and vestibular assessment over not having these assessments | ↑↑ | ⨁⨁◯◯ |
We cannot recommend either the use or non-use of hearing aids (or cochlear implants) for individuals with Friedreich ataxia with auditory deficits | – | ⨁⨁◯◯ |
We cannot recommend the use of amplification devices over cochlear implants for individuals with Friedreich ataxia with auditory deficits | – | ⨁⨁◯◯ |
We suggest using remote-microphone listening devices over not using any devices for individuals with Friedreich ataxia with auditory deficits | ↑ | ⨁⨁◯◯ |
3.11 Cognitive function in Friedreich ataxia | ||
Recommendations | ||
We suggest development and implementation of an educational program for affected individuals and their families and carers to improve information about the potential for, and management of, cognitive dysfunction in individuals with Friedreich ataxia | ↑ | ⨁◯◯◯ |
We recommend that clinicians should not use active neuromodulation (tDCS, TMS) as part of clinical practice to improve cognitive function in individuals with Friedreich ataxia | ↓↓ | ⨁◯◯◯ |
4. The heart and cardiovascular system in Friedreich ataxia | ||
4.2 Monitoring | ||
Best practice statements | ||
An EKG and an echocardiogram should be performed at diagnosis of Friedreich ataxia and then at least annually | ||
Either 24-h Holter monitoring or Loop monitoring, or possibly both tests, are indicated for individuals with palpitations or other symptoms suggesting the possibility of an arrhythmia. A Loop monitor will be an appropriate additional test when symptoms are infrequent | ||
Evaluation by a cardiologist should take place if an individual with Friedreich ataxia has cardiac symptoms or abnormal results on cardiac testing | ||
Patients with Friedreich ataxia being considered for scoliosis surgery, or other major surgery, are at risk of a poor outcome and require a multi-disciplinary approach to the management of heart function during surgery and in the postoperative period | ||
Recommendations | ||
There is not sufficient evidence to make a recommendation for or against using advanced imaging techniques over standard echocardiography for identifying at-risk individuals with Friedreich ataxia | – | ⨁◯◯◯ |
There is not sufficient evidence to make a recommendation about Holter monitoring for individuals with Friedreich ataxia who do not have symptoms suggesting they might have an arrhythmia | – | ⨁◯◯◯ |
4.3 Arrythmias | ||
Best practice statement | ||
For treatment of symptomatic arrhythmias in Friedreich ataxia, antiarrhythmic medications (other than betablockers) which are negatively inotropic or are recognized to have a high risk for proarrhythmic effects cannot be assumed to be safe and should rarely, if ever, be used | ||
Recommendations | ||
We conditionally recommend anticoagulation over no anticoagulation in individuals with Friedreich ataxia with permanent, persistent or paroxysmal atrial fibrillation | ↑ | ⨁◯◯◯ |
We conditionally recommend attempts to maintain a normal cardiac rhythm over rate control in individuals with Friedreich ataxia and atrial tachyarrhythmias, and also recommend consideration of ablation for those who remain severely symptomatic due to a persistent atrial tachyarrhythmia or frequent paroxysms of an atrial tachyarrhythmia | ↑ | ⨁◯◯◯ |
4.4 Heart failure | ||
Best practice statements | ||
There is no therapy with proven cardiac benefits for asymptomatic people with Friedreich ataxia with echocardiographic or cardiac magnetic resonance findings of either a normal heart or increased left ventricular wall thickness but normal ejection fraction | ||
In adults with Friedreich ataxia and a reduction in left ventricular ejection fraction there is a case for treating according to standard heart failure guidelines | ||
In individuals with Friedreich ataxia and symptomatic heart failure there is a case for treating according to standard heart failure guidelines | ||
Women with Friedreich ataxia and a reduction in left ventricular ejection fraction should be advised that pregnancy could result in cardiac decompensation and a greater maternal and fetal risk | ||
Treatment options such as an ICD and heart transplantation are not contraindicated in Friedreich ataxia, but the appropriateness of such therapy requires careful consideration of the individual’s functional status and their prognosis from non-cardiac morbidities | ||
Recommendations | ||
We do not suggest using heart failure medication and/or devices for individuals with Friedreich ataxia with a preserved left ventricular ejection fraction | ↓ | ⨁◯◯◯ |
We conditionally recommend treating individuals with Friedreich ataxia with a reduced left ventricular ejection fraction with medications according to current American Heart Association/American College of Cardiology heart failure guidelines (2013 & 2017 update) | ↑ | ⨁◯◯◯ |
Advanced heart failure therapies such as a left ventricular assist device, implantable cardioverter-defibrillator, biventricular pacemaker and heart transplantation should be considered for individuals with Friedreich ataxia and heart failure due to a reduced left ventricular ejection fraction, based on consideration of both their cardiac and overall health status | ↑ | ⨁◯◯◯ |
5. Surgical and anesthetic considerations in Friedreich ataxia | ||
Best practice statements | ||
Patients with Friedreich ataxia being considered for scoliosis surgery, or other major surgery, are at risk of poor outcomes and require a multi-disciplinary approach to the management of heart function during surgery and in the postoperative period | ||
As per the 2014 guidelines, it is the view of the expert authors that evaluation by a cardiologist should take place prior to major surgery; cardiac monitoring should take place during major surgery; and major surgery should ideally be conducted in a center with cardiac intensive care facilities | ||
Careful monitoring of fluid balance is essential in individuals with Friedreich ataxia undergoing stressful events such as scoliosis surgery or hydration therapy in the emergency room setting | ||
Consideration should be given to appropriate management of peri-operative pain in people with Friedreich ataxia; consideration should be given to the use of nondepolarizing muscle relaxants, in particular accurate assessment of neuromuscular block throughout anesthesia; consideration should be given to avoiding risks associated with hyperkalemia; there should be careful monitoring of fluid balance and cardiovascular function in people with Friedreich ataxia undergoing anesthesia | ||
Propofol has been used in a large number of individuals with Friedreich ataxia and there is no published evidence that documents adverse events related to the use of propofol in this population. This suggests that theoretical concerns of possible mitochondrial toxicity with propofol are not likely to be clinically meaningful | ||
Recommendation | ||
We suggest early mobilization following surgery over standard post-operative management for individuals with Friedreich ataxia undergoing surgery. We cannot recommend a particular approach to the timing of getting someone out of bed post-surgery. It is probably best to mobilize as soon as possible with consideration for the following: cardiac/medical status, mobility needs, and decreased reserve of strength | ↑ | ⨁◯◯◯ |
6. Pulmonary function and sleep disturbance | ||
6.1 Reduced pulmonary function and pulmonary infection | ||
Best practice statement | ||
Individuals with advanced Friedreich ataxia should be monitored for reduced pulmonary muscle strength and restrictive lung disease. Based on data from clinical evaluations, pulmonary function testing and possibly sleep studies, interventions such as assisted airway clearance techniques and non-invasive assisted ventilation should be offered | ||
Recommendations | ||
We conditionally recommend that individuals with advanced Friedreich ataxia be monitored* at least annually for restrictive lung disease and sleep disordered breathing (SDB) *Monitoring should include a respiratory symptom check list (dyspnea, orthopnea, episodes of apnea during night, poor sleep, morning headache, decreased concentration and attention, fatigue, treated chest infection within the past few months), a sleepiness questionnaire and a fatigue scale. Annual (or more frequent) pulmonary function testing should be performed to include forced vital capacity (FVC), maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP), peak expiratory cough flow (PECF), SpO2 and partial pressure of end tidal CO2 (PetCO2) | ↑ | ⨁◯◯◯ |
We conditionally recommend against monitoring for restrictive lung disease and sleep disordered breathing at diagnosis of Friedreich ataxia rather than at later stages of the disease, as there is no evidence that this would be of benefit | ↓ | ⨁◯◯◯ |
In individuals with Friedreich ataxia and impaired airway clearance (PECF < 270 L/min or FVC < 50% predicted), we suggest assisted coughing (mechanical/manual) be implemented to assist in airway clearance and reduce the prevalence of chest infections | ↑ | ⨁◯◯◯ |
In people with respiratory weakness and restrictive lung disease with Friedreich ataxia, we conditionally recommend chest physiotherapy to improve respiratory function, reduce prevalence of chest infection, reduce dyspnea and improve airway clearance function | ↑ | ⨁◯◯◯ |
We conditionally recommend non-invasive assisted ventilation for patients with Friedreich ataxia and documented restrictive lung disease meeting the following thresholds: FVC < 50% predicted; maximum inspiratory pressure < 60 cm H2O; nocturnal hypercarbia (pCO2 > 50 mm Hg for ≥ 2% of sleep time or a 10 mm Hg increase in pCO2 compared to awake baseline pCO2 for ≥ 2% of sleep time); nocturnal hypoxia (SpO2 ≤ 88% for ≥ 2% of sleep time or 5 min continuously); or apnea–hypopnea index ≥ 5. Daytime hypoventilation indicated by hypercarbia of > 45 mm Hg or baseline PO2 < 95% on room air is also an indication for nocturnal assisted ventilation | ↑ | ⨁◯◯◯ |
We cannot recommend either respiratory strength training or no respiratory strength training for people with Friedreich ataxia and respiratory weakness and restrictive lung disease. We suggest that in selected patients with respiratory weakness, supervised respiratory training be considered with monitoring of respiratory parameters and for adverse effects such as exhaustion | – | ⨁◯◯◯ |
6.2 Sleep disordered breathing and nocturnal hypoventilation | ||
Best practice statement | ||
Individuals with advanced Friedreich ataxia should be monitored for sleep disordered breathing using clinical questionnaires and assessments. When obstructive sleep apnea is diagnosed, appropriate night-time ventilatory assistance or an appropriate alternative treatment should be offered | ||
Recommendations | ||
We conditionally recommend that individuals with advanced Friedreich ataxia be monitored* at least annually for restrictive lung disease and sleep disordered breathing (SDB) *Monitoring should include a respiratory symptom check list (dyspnea, orthopnea, episodes of apnea during night, poor sleep, morning headache, decreased concentration and attention, fatigue, treated chest infection within the past few months), a sleepiness questionnaire and a fatigue scale. Annual (or more frequent) pulmonary function testing should be performed to include forced vital capacity (FVC), maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP), peak expiratory cough flow (PECF), SpO2 and partial pressure of end tidal CO2 (PetCO2) | ↑ | ⨁◯◯◯ |
We conditionally recommend against monitoring for restrictive lung disease and sleep disordered breathing at diagnosis of Friedreich ataxia rather than at later stages of the disease, as there is no evidence that this would be of benefit | ↓ | ⨁◯◯◯ |
In individuals with Friedreich ataxia and sleep disordered breathing/sleep apnea and/or evidence of nocturnal hypoventilation, we suggest non-invasive ventilation be implemented to assist in fatigue; sleepiness; quality of night time sleep; blood gas parameters; and cardiac function | ↑ | ⨁◯◯◯ |
6.3 Restless legs and/or periodic limb movements in sleep | ||
Recommendations | ||
We conditionally recommend the use of prevention strategies/lifestyle changes (such as reduction of alcohol and nicotine use) over no prevention strategies/lifestyle changes or medication in individuals with Friedreich ataxia with restless legs syndrome | ↑ | ⨁◯◯◯ |
We conditionally recommend investigating serum ferritin levels in individuals with Friedreich ataxia presenting with symptoms of restless legs syndrome over not checking ferritin. Serum ferritin is usually measured in combination with serum iron and transferrin saturation. Given that serum ferritin can be raised when inflammation is present, acute and chronic inflammation should be assessed at the same time by doing a white cell count and measuring C-reactive protein (CRP) | ↑ | ⨁⨁◯◯ |
We suggest alternative/complementary treatments should not be used over no treatment/medication/lifestyle/ physiotherapy for restless legs syndrome in Friedreich ataxia | ↓ | ⨁◯◯◯ |
We suggest iron supplementation could be trialed for treatment of RLS in individuals with Friedreich ataxia and serum ferritin < 50 mcg/ml, but only If other treatments have been tried and are not effective. Clinicians should only consider a trial of iron supplements if serum ferritin is < 50 mcg/ml and no acute or chronic inflammation is present, with close monitoring and a review to assess any adverse effects on ataxia after 3 to 6 months. If an individual has RLS and serum ferritin > 75 mcg/ml, they should not be given iron supplements | ↑ | ⨁◯◯◯ |
We conditionally recommend medication for individuals with Friedreich ataxia with RLS which interferes with sleep (with or without associated PLMS) over no medication. Gabapentin and pregabalin are the preferred choice of pharmacological treatment of RLS in Friedreich ataxia as they are as effective as levodopa but do not have the same side-effects. The dopamine agonists pramipexole and ropinirole may be helpful but should be used with caution in Friedreich ataxia due to the risk of augmentation of RLS symptoms. If PLMS is present it should be treated if the individual has disabling symptoms. Levodopa may be used intermittently when disabling RLS/PLMS symptoms are present since augmentation of RLS occurs only with long-term use. Given that levodopa alleviates symptoms of RLS rapidly, a 'test dose' of levodopa may be used to confirm a diagnosis of RLS in an individual with Friedreich ataxia | ↑ | ⨁◯◯◯ |
7. Fatigue in Friedreich ataxia | ||
Best practice statement | ||
Sometimes it may be difficult for individuals with Friedreich ataxia to identify if they suffer from fatigue. In this case, they should be offered a detailed assessment of fatigue including administration of a standardized assessment such as the Modified Fatigue Impact Scale [31] and enquiry about the impact of fatigue on the capacity to participate in daily activities | ||
Recommendations | ||
We suggest behavioral management (mindfulness, energy conservation, use of assistive devices, sleep hygiene, stress reduction, cognitive behavioral therapy, relaxation, avoiding multitasking) may assist in managing fatigue in individuals with Friedreich ataxia | ↑ | ⨁⨁◯◯ |
We suggest a physical activity program be used to manage fatigue in individuals with Friedreich ataxia | ↑ | ⨁⨁⨁◯ |
We suggest some pharmacological intervention (antioxidants, antidepressants) may have value in managing fatigue related to Friedreich ataxia | ↑ | ⨁⨁◯◯ |
We cannot recommend either alternative therapies/physical modalities (i.e., light therapy, cooling therapy, pulsed electromagnetic devices, acupuncture) or no alternative therapies/physical modalities be used for all individuals who report fatigue with Friedreich ataxia | – | ⨁◯◯◯ |
We cannot recommend any specific diet over usual diet to assist in managing fatigue in individuals with Friedreich ataxia | – | ⨁◯◯◯ |
8. Pain in Friedreich ataxia | ||
8.2 Neuropathic pain | ||
Best practice statements | ||
Neuropathic pain may be treated with gabapentin, pregabalin, lamotrigine, amitriptyline or duloxetine | ||
A detailed sensory assessment and examination by a clinician familiar with the peripheral neuropathy related to Friedreich ataxia will establish the extent of neuropathy | ||
Protective foot care is important | ||
Preventative measures such as review of daily activities, transfers and wheelchair positioning may reduce the incidence of focal neuropathies | ||
Recommendations | ||
We suggest the use of oral medication over no medication in individuals with Friedreich ataxia who have painful neuropathy | ↑ | ⨁⨁◯◯ |
We suggest that clinicians should not consider the use of oral supplements to manage neuropathic pain in individuals with Friedreich ataxia | ↓ | ⨁◯◯◯ |
We suggest the use of topical agents over no treatment in the management of neuropathic pain in Friedreich ataxia | ↑ | ⨁◯◯◯ |
8.3 Pain not related to neuropathy | ||
Recommendations | ||
We conditionally recommend the use of oral medication over no medication to manage pain in individuals with Friedreich ataxia | ↑ | ⨁◯◯◯ |
We conditionally recommend the use of physical therapy in the first instance, over no physical therapy or medication to manage pain in individuals with Friedreich ataxia. If physical therapy is not effective, as per the previous recommendation we conditionally recommend the use of oral medication over no medication | ↑ | ⨁◯◯◯ |
We conditionally recommend that injections for musculoskeletal pain can be tried in individuals with Friedreich ataxia when medications are not tolerated or are insufficiently effective | ↑ | ⨁◯◯◯ |
We cannot recommend the use of implanted devices (spinal stimulator or pain pump) over oral medication for pain in individuals with Friedreich ataxia. Clinicians may consider implanted devices in individuals with severe symptoms in whom less invasive treatments have proven insufficiently effective | – | ⨁◯◯◯ |
9. Orthopedic issues in Friedreich ataxia | ||
9.2 Scoliosis | ||
Best practice statements | ||
Spinal examination must be part of the multidisciplinary approach for individuals with Friedreich ataxia and should be performed regularly | ||
Individuals with Friedreich ataxia with a spinal curve between 20° and 40° and/or between the ages of 10 and 16 years should be observed for curve progression | ||
Bracing may not reduce or stop the progression of curves; however, it may be valuable in delaying surgical correction in the young child | ||
People with Friedreich ataxia with a scoliosis > 40° may be considered appropriate for surgical correction | ||
Consideration should be given to delaying surgical intervention in ambulant individuals with Friedreich ataxia | ||
All people with Friedreich ataxia considered for scoliosis surgery require extensive pre-operative evaluation and planning regarding cardiac and pulmonary function | ||
Recommendations | ||
We suggest surgery should not be used over conservative therapy for individuals with scoliosis and Friedreich ataxia. Expert opinion suggests that conservative therapy, including the use of bracing during the time of rapid growth in children/adolescents (age 10 to 16 years), may assist in avoiding or delaying surgery | ↓ | ⨁◯◯◯ |
We recommend that age should be considered when contemplating scoliosis surgery for individuals with Friedreich ataxia | ↑↑ | ⨁◯◯◯ |
We recommend stratifying individuals with Friedreich ataxia according to cardiac status when considering scoliosis surgery | ↑↑ | ⨁◯◯◯ |
9.3 Foot deformity | ||
Recommendations | ||
We conditionally recommend orthopedic surgery for individuals with foot issues with Friedreich ataxia if it is considered such surgery would assist in foot alignment to facilitate mobility and/or safe and effective transfers | ↑ | ⨁◯◯◯ |
We conditionally recommend the use of orthotics (including ankle–foot orthotics, ankle braces and in-shoe orthotics) for individuals with foot issues with Friedreich ataxia | ↑ | ⨁◯◯◯ |
We cannot recommend either physiotherapy (including stretching, soft-tissue work) or no physiotherapy for individuals with foot issues with Friedreich ataxia | – | ⨁◯◯◯ |
10. Endocrine and metabolic issues in Friedreich ataxia | ||
10.1 Diabetes mellitus | ||
Best practice statements | ||
All individuals with Friedreich ataxia should have annual screening for diabetes mellitus and symptoms of hyperglycemia (polyuria, polydipsia, unexplained weight loss) should be reviewed with patients and families | ||
Management of diabetes mellitus in Friedreich ataxia should involve diabetes specialists and take an individualized approach | ||
Recommendations | ||
We recommend at least annual screening for diabetes mellitus with HbA1c and fasting plasma glucose in children and adults with Friedreich ataxia, with consideration of an oral glucose tolerance test if impaired fasting glucose or pre-diabetes (from HbA1c) is identified, over universal screening with an oral glucose tolerance test. The decision to pursue intermittent oral glucose tolerance tests should be discussed with patients and families on an individualized basis | ↑↑ | ⨁⨁◯◯ |
There is insufficient evidence to favor either insulin alone or metformin or novel glucose-lowering therapies (e.g., SGLT2i, GLP1RA, DPPIVi) as initial therapy for adults with lower-risk diabetes mellitus (HbA1c < 8.5%, no ketones, no acute hyperglycemia) with Friedreich ataxia. We suggest an individualized approach with either insulin alone, and/or a glucose-lowering agent, with the choice of medication patient dependent, particularly because of the heterogeneity in Friedreich ataxia-related diabetes mellitus | – | ⨁◯◯◯ |
There is insufficient evidence to favor either insulin alone or insulin in combination with metformin or novel glucose-lowering therapy (e.g., SGLT2i, GLP1RA, DPPIVi), in adults with Friedreich ataxia and higher-risk diabetes mellitus (HbA1c ≥ 8.5%, ketones, or acute hyperglycemia). Insulin is an appropriate treatment but possible risks and benefits of adding other medications are unknown in Friedreich ataxia and treatments must be individualized | – | ⨁◯◯◯ |
We suggest using insulin alone rather than insulin and other glucose-lowering therapy as the primary treatment for most children (under 18 years old) with Friedreich ataxia-related diabetes mellitus | ↑ | ⨁◯◯◯ |
10.2 Osteoporosis | ||
Best practice statements | ||
Addressing identified nutritional deficiencies in calcium and vitamin D in individuals with low bone health is considered best practice in both adults (e.g., National Osteoporosis Foundation guidelines: https://www.bonesource.org/clinical-guidelines) and children [32]. However, there may be risks (e.g., hypercalciuria) with universal supplementation. There are no data to suggest any additional benefit of calcium or vitamin D supplementation for bone health beyond the standard daily recommended intakes | ||
Individuals with Friedreich ataxia and osteoporosis should be managed by clinicians with relevant experience | ||
Recommendations | ||
We recommend universal screening assessment of bone mineral density (DXA scan, fracture history) over risk-stratified screening in adults with Friedreich ataxia, given the availability of anti-osteoporosis medications that have been shown to prevent pathological fractures due to low bone mineral density (osteopenia, osteoporosis) in related populations | ↑↑ | ⨁⨁◯◯ |
Clinicians should consider universal screening of children with Friedreich ataxia for low bone density via DXA; at minimum, a risk-stratified approach is recommended | ↑ | ⨁◯◯◯ |
We conditionally recommend annual screening for vitamin D deficiency over no screening or risk-stratified screening in individuals with Friedreich ataxia | ↑ | ⨁⨁◯◯ |
We conditionally recommend against routine calcium and vitamin D supplementation for individuals with Friedreich ataxia, but vitamin D and calcium supplementation should be considered for those with identified nutritional and/or biochemical deficiencies in calcium and vitamin D intake as these are known risk factors for decreased bone health and may contribute to longer-term fracture risk | ↓ | ⨁⨁◯◯ |
We conditionally recommend anti-resorptive (bisphosphonate) therapy for children with Friedreich ataxia who may not yet have an aBMD Z-score of -2.0 or lower, but have at least one clinically significant fragility fracture. We recommend that treatment be undertaken by a clinician with relevant expertise, such as a pediatric endocrinologist | ↑ | ⨁◯◯◯ |
10.3 Assessing nutritional status | ||
Best practice statements | ||
All individuals with Friedreich ataxia should have height, weight, and BMI measured at least annually. In the minority of individuals who cannot safely stand with assistance, an alternate measurement could be used (e.g., ulnar length, supine length, seated height, or arm span) | ||
The United States Preventive Services Task Force (USPSTF) and other organizations recommend routine screening for nutritional status with BMI (in children, adolescents, and adults) | ||
Recommendations | ||
We suggest using standard BMI thresholds to define underweight and overweight in children and adults with Friedreich ataxia | ↑ | ⨁◯◯◯ |
11. Genetic issues in Friedreich ataxia | ||
11.2 Testing adult siblings | ||
Best practice statements | ||
Requests for carrier testing by at-risk adult siblings are best managed on a case-by-case basis; there is no evidence to support the routine provision or refusal of carrier testing for Friedreich ataxia | ||
All at-risk siblings identified as having Friedreich ataxia pre-symptomatically and their families would benefit from immediate post-test counseling and psychosocial support and referral for appropriate neurological and cardiac surveillance | ||
Recommendations | ||
We suggest that adult siblings of a person with Friedreich ataxia, who do not wish to have genetic testing to confirm whether or not they have Friedreich ataxia, be offered echocardiography to see if they have any cardiac signs that may require treatment | ↑ | ⨁◯◯◯ |
We suggest that adult siblings of people with Friedreich ataxia should be offered a physical examination. They should be made aware that this could identify signs of Friedreich ataxia. Absence of signs of Friedreich ataxia does not mean that they will not be found to have biallelic pathogenic variants in FXN. The older the individual with a normal examination, the less likely they are to have biallelic pathogenic variants in FXN | ↑ | ⨁◯◯◯ |
11.3 Testing minor siblings | ||
Recommendations | ||
If an asymptomatic at-risk minor sibling of a person with Friedreich ataxia has not had genetic testing to confirm whether or not they have the genetic predisposition to Friedreich ataxia, we suggest they should be offered echocardiography to assess if they have cardiac morbidity that may require treatment. The minor (when of maturity to understand) and their parents should be made aware that echocardiography can identify that the child has Friedreich ataxia on the basis of the presence of typical cardiac findings. They should also be made aware that a normal echocardiogram does not exclude the diagnosis of Friedreich ataxia | ↑ | ⨁◯◯◯ |
We suggest minors at risk of Friedreich ataxia (siblings of people with Friedreich ataxia) should be offered psychological support to assist with dealing with anxiety that may arise from being at risk of developing the condition | ↑ | ⨁◯◯◯ |
We cannot recommend the routine offer of pre-symptomatic genetic testing over refusal to offer testing for immature minors at risk of Friedreich ataxia. Each situation is unique and should be managed on a case-by-case basis with referral to a team with expertise in pre-symptomatic genetic testing and the related issues | – | ⨁◯◯◯ |
We conditionally recommend testing over refusal of testing for an asymptomatic mature at-risk minor who requests genetic testing for Friedreich ataxia. When a mature minor requests testing, a referral should be made to a team with expertise in pre-symptomatic genetic testing for Friedreich ataxia and the related issues | ↑ | ⨁◯◯◯ |
11.4 Testing other relatives | ||
Best practice statement | ||
Carrier testing should be first undertaken on the closest relative as a negative result means that genetic testing of more distant relatives may not be necessary | ||
11.5 Provision of information on GAA repeat size | ||
Recommendation | ||
Although not all testing laboratories report FXN GAA repeat sizes, we suggest that when repeat sizes are reported for pre-symptomatic testing for Friedreich ataxia and the individual is homozygous for FXN GAA expansions, this information is provided to the tested individual upon request. Where GAA repeat sizes are provided to the tested individual we suggest that the individual is informed that there is a negative correlation between GAA1 size and age at onset, but the range of age of onset for any GAA1 size is broad and the age of onset for that person cannot be predicted with certainty | ↑ | ⨁◯◯◯ |
11.6 Optimal genetic support services | ||
Best practice statements | ||
Referral to a clinical geneticist or genetic counselor should be considered on diagnosis of Friedreich ataxia | ||
All individuals identified pre-symptomatically and their families would benefit from immediate post-test counseling and psychosocial support and referral for appropriate neurological and cardiac surveillance | ||
There is no evidence to support routine use of any pharmacological therapies in patients diagnosed with Friedreich ataxia pre-symptomatically | ||
12. Friedreich ataxia due to compound heterozygosity | ||
Best practice statements | ||
If a person compound heterozygous for a FXN GAA expansion and a point mutation/deletion has a similar phenotype to those with Friedreich ataxia due to homozygosity for GAA expansions, they should be managed as per the guidelines in this document | ||
If spastic ataxia is the predominant phenotype, then the main management issue is that of spasticity and the guidelines for management of spasticity should be followed | ||
It should never be assumed that other features of typical Friedreich ataxia (e.g., cardiomyopathy, diabetes) will not be present in individuals with compound heterozygosity; therefore, monitoring for these should take place | ||
13. Family planning and pregnancy in Friedreich ataxia | ||
Best practice statements | ||
Testing for carrier status of reproductive partners should be made available to couples where one member has Friedreich ataxia, prior to conception in order to advise the couple of the risk of having a child with Friedreich ataxia and to offer appropriate counseling | ||
When possible, it is advisable for women to have children earlier in their disease course | ||
Pregnancy in women with Friedreich ataxia and a reduced left ventricular ejection fraction and/or a history of heart failure is likely to be associated with an increased risk of adverse maternal and fetal outcomes. Pre-pregnancy counseling for such women is suggested, including consultation with a multidisciplinary team that should include a cardiologist and an obstetrician | ||
Women with Friedreich ataxia should be encouraged to proceed with pregnancy if they wish to do so and if their cardiac status is adequate [33] | ||
Glucose tolerance testing should be performed between 24 and 28 weeks of gestation or earlier for individuals deemed to be at high risk by their practitioner [34] | ||
Women with Friedreich ataxia should have close monitoring by a cardiologist during pregnancy | ||
There is insufficient evidence to determine if magnesium sulfate can be safely administered to women with Friedreich ataxia with preeclampsia | ||
There is insufficient evidence to determine if common beta-agonist tocolytic agents can be safely administered to women with Friedreich ataxia experiencing pre-term labor | ||
Pregnant women with Friedreich ataxia and deep venous thrombosis should be treated with heparin as opposed to warfarin [35] | ||
Vaginal delivery can be expected for most pregnancies in women with Friedreich ataxia [36] | ||
Close fetal monitoring during delivery is recommended [37] | ||
If cesarean section is medically indicated, epidural or spinal anesthesia can generally be safely used in women with Friedreich ataxia [38, 39] | ||
Recommendation | ||
We conditionally recommend that women with Friedreich ataxia with reduced ejection fraction with or without heart failure be advised of the risks of mortality and morbidity associated with commencing or proceeding with a pregnancy | ↑ | ⨁◯◯◯ |
14. Mental health issues in Friedreich ataxia | ||
14.2 Depression | ||
Best practice statements | ||
Individuals with Friedreich ataxia require regular evaluation in terms of risks for developing depression and/or other mental health issues | ||
Individuals with Friedreich ataxia A may benefit from regular counseling to assist in adjusting to transitional events and possibly prevent the emergence of related depression | ||
Individuals with Friedreich ataxia identified with depression should be treated with established interventions including counseling ± pharmacological agents | ||
The risk of suicide in individuals with Friedreich ataxia should be considered and managed proactively | ||
Recommendations | ||
We conditionally recommend the use of antidepressant medication in individuals with Friedreich ataxia who present with symptoms of depression | ↑ | ⨁◯◯◯ |
We recommend counseling or therapy over no counseling in individuals with Friedreich ataxia who present with symptoms of depression | ↑↑ | ⨁◯◯◯ |
We recommend lifestyle changes (exercise, diet, social activities) either prior to or in conjunction with other interventions, including antidepressants, for individuals with Friedreich ataxia who have symptoms of depression | ↑↑ | ⨁◯◯◯ |
14.3 Anxiety | ||
Recommendations | ||
We conditionally recommend the use of anti-anxiety medication in individuals with Friedreich ataxia who present with symptoms of anxiety | ↑ | ⨁◯◯◯ |
We recommend counseling or therapy over no counseling for individuals with Friedreich ataxia who present with symptoms of anxiety | ↑↑ | ⨁◯◯◯ |
We conditionally recommend against lifestyle changes as a primary intervention to treat anxiety in individuals with Friedreich ataxia, favoring anti-anxiety medication or counseling prior to or in conjunction with any lifestyle changes | ↓ | ⨁◯◯◯ |
14.4 Psychosis | ||
Recommendations | ||
We conditionally recommend the use of antipsychotic medication in individuals with Friedreich ataxia with confirmed episodes of psychosis | ↑ | ⨁◯◯◯ |
We conditionally recommend against the use of counseling or therapy over antipsychotic medication in cases of acute psychosis in Friedreich ataxia | ↓ | ⨁◯◯◯ |
15. Emergency presentations in Friedreich ataxia | ||
15.1 Chest pain | ||
Recommendation | ||
We recommend that chest pain assessment in Friedreich ataxia should incorporate the following considerations: coronary artery disease is not more or less common than in the non-Friedreich ataxia population; ECG is usually abnormal in Friedreich ataxia in the absence of coronary disease; troponin can be elevated in patients with Friedreich ataxia for a non-coronary reason and should not be assumed to indicate an acute coronary syndrome; the possibility of increased incidence of pulmonary embolism due to the sedentary nature of the disease. If troponin is elevated, then serial troponin assessment is very important. In the setting of left ventricular hypertrophy an episode of atrial fibrillation can lead to angina-like pain | ↑↑ | ⨁⨁◯◯ |
15.2 Other emergency presentations | ||
15.2.1 Musculoskeletal presentations | ||
Best practice statements | ||
Pain may exacerbate spasticity/spasms, and therefore pharmacological management of spasticity may be required to minimize the impact on physical function and mobility | ||
Treatment of any orthopedic injury may require a coordinated multi-disciplinary approach in an inpatient rather than outpatient or community setting, due to the potential for decline in function. This should be assessed on an individualized basis | ||
Recommendations | ||
We suggest thorough and careful multi-disciplinary assessment of the causes and effects of falls should be performed for individuals with Friedreich ataxia presenting to the emergency department with a fall over standard assessment, taking into consideration factors such as neurological progression, cardiac arrhythmia, hypotension, uncontrolled or newly presenting diabetes. More advanced imaging such as CT or MRI scan may be necessary to assess for any spinal cord or nerve root compression, or for complications related to any prior scoliosis surgery, such as rod infection or migration | ↑ | ⨁◯◯◯ |
We suggest that trauma management approaches that minimize the time spent immobilized might be considered, with careful consideration of the risks and benefits related to each individual with Friedreich ataxia | ↑ | ⨁◯◯◯ |
15.2.2 Urinary tract infection | ||
Recommendation | ||
The assessment of UTIs in the emergency department for individuals with Friedreich ataxia should not be fundamentally different from standard care in individuals without Friedreich ataxia. However, we recommend reviewing self-catheterization technique, if appropriate, and performing diagnostic evaluation to assess for elevated residual urine (including a bladder scan) and morphological causes (including an ultrasound of the kidneys, ureters and bladder (KUB) and outpatient cystoscopy) | ↑↑ | ⨁◯◯◯ |
15.2.3 Diabetes emergency | ||
Recommendation | ||
We suggest routine diabetes screening using an appropriate test in all individuals with Friedreich ataxia who present to the emergency department, even in the event of a seemingly unrelated complaint. Once hyperglycemia has been determined, management in individuals with Friedreich ataxia should not be fundamentally different to the management of hyperglycemia in individuals without Friedreich ataxia, but with the following consideration: individuals with Friedreich ataxia and diabetic ketoacidosis may need a higher dose of insulin therapy as a result of insulin deficiency and insulin resistance in Friedreich ataxia | ↑ | ⨁◯◯◯ |
16. Digital and assistive technologies | ||
Best practice statements | ||
Comprehensive assessment to identify barriers to independence should be conducted by a multidisciplinary team to identify appropriate customizable digital and assistive technology to optimize independence and occupational participation and performance, and to enhance quality of life | ||
Compensatory or remedial interventions with digital and assistive technology may improve independence for individuals with Friedreich ataxia | ||
Prescription of a manual or powered wheelchair or scooter should be preceded by an assessment of the home/school/work and community environment the equipment will be used in | ||
A comprehensive prescription of a manual or powered wheelchair or scooter should be completed by a qualified clinician familiar with the specific issues related to Friedreich ataxia | ||
A validated assessment and evaluation tool for wheelchair and seating prescription may be used to guide the process of prescription and evaluation | ||
In prescribing a manual wheelchair and seating system, functional capacity should not be impeded for the sake of an anatomically correct seated posture | ||
Appropriate training should be provided for the safe use of a wheelchair or scooter in the home or community environment | ||
Suitability of the seating and wheelchair system should be evaluated on an annual basis in adults and biannually in children | ||
Recommendations | ||
For individuals with Friedreich ataxia with impaired independent gait/mobility, we suggest the use of customized assistive technology for mobility (e.g., modified vehicle, wheelchair, transfer devices, walkers, and adaptive seating and positioning) to enhance independence in mobility, quality of life, and social and occupational participation, and to reduce falls | ↑ | ⨁◯◯◯ |
For individuals with Friedreich ataxia with impaired upper limb functionality, we suggest the use of customized assistive technology for personal care and environmental control (e.g., iPad, home apps, smart watches, Alexa/Siri) to enhance independence in daily activities, quality of life, and social and occupational participation | ↑ | ⨁◯◯◯ |
For individuals with Friedreich ataxia and fatigue, a risk of falls, poor sleep, diabetes and/or cardiomyopathy, we suggest the use of health monitoring/alert devices (e.g., monitoring heart rate, steps, sleep, ECG, activity, healthy eating, medication, glucose for Friedreich ataxia-related diabetes) to enhance independence in daily activities and quality of life, and improve medication control | ↑ | ⨁◯◯◯ |
For individuals with Friedreich ataxia with impaired communication and workplace difficulties, we suggest the use of customized assistive technology for communication and the workplace (e.g., writing, speech, computer use, tablets, workplace design [adaptive seating and positioning], vision and hearing) to enhance independence in communication, improve quality of life and increase occupational participation | ↑ | ⨁◯◯◯ |
17. End-of-life care | ||
17.1 Advance care planning | ||
Best practice statement | ||
Given the advances in medical technology that can prolong life in the setting of advanced disease, all adults with Friedreich ataxia should consider appointing a designated healthcare representative. This person may be a trusted family member, close friend or independent advocate who will act on the authority of the person with Friedreich ataxia. It is important that the representative understands the care the person with Friedreich ataxia would like or not wish to have. Treatment preferences can be set out in an advance care plan in case the person with Friedreich ataxia becomes disabled or unable to communicate their own wishes | ||
Recommendation | ||
We conditionally recommend advance care planning (ACP) for individuals with Friedreich ataxia who have reached adulthood, have major complications such as heart failure, have experienced a significant change in their mobility, have dysphagia or have barriers to communication, bearing in mind that the published literature on ACP is in heart failure. ACP should also address the "future loss of dignity" by putting in place a safeguard that a person’s own values and wishes be respected in their care. This would help to implement a degree of control over a disease which is often out of the control of the person with Friedreich ataxia | ↑ | ⨁⨁◯◯ |
17.2 Palliative care | ||
Best practice statement | ||
All patients with Friedreich ataxia should be offered palliative care at specific time-points, such as with their transition to adult care, as well as when clinical milestones occur (e.g., loss of ambulation, onset of dysphagia, and with development of symptomatic heart failure) so that quality of life and future care preferences can be discussed | ||
Recommendation | ||
We suggest that a palliative care consultation should be considered for individuals with Friedreich ataxia complicated by heart failure, particularly when there is a large burden of symptoms, poor perceived quality of life, or an upcoming medical decision to be made about which there is uncertainty of benefit or a significant impact on quality of life | ↑ | ⨁⨁◯◯ |
17.3 End-of-life hospice care | ||
Best practice statement | ||
Individuals with Friedreich ataxia should receive end-of-life care tailored to their individual healthcare-related values, with a focus on alleviating burdensome symptoms and promoting their opportunity to choose the location of care if such a preference exists | ||
Recommendation | ||
We suggest that people with Friedreich ataxia with advanced heart failure would benefit from hospice support when their goals align with a comfort-focused approach and the individual’s prognosis meets eligibility criteria—usually a life expectancy of 6 months or less if the disease runs its natural course | ↑ | ⨁◯◯◯ |