Table 2 Clinical management guidelines for Friedreich ataxia—topics
From: Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
1 | Overview of Friedreich ataxia |
2 | Potential disease modifying therapies for Friedreich ataxia |
3 | Neurological components of Friedreich ataxia |
3.1 | Upper limb dysfunction |
3.2 | Strength, balance, mobility and reduction of falls in ambulant individuals |
3.3 | Strength, balance, mobility and reduction of falls in non-ambulant individuals |
3.4 | Spasticity and spasms |
3.5 | Dysarthria |
3.6 | Dysphagia |
3.7 | Vision |
3.8 | Lower urinary tract and bowel function |
3.9 | Sexual function |
3.10 | Auditory and vestibular function |
3.11 | Cognitive function |
4 | The heart and cardiovascular system |
5 | Surgical and anesthetic considerations |
6 | Pulmonary function and sleep disturbance |
6.1 | Reduced pulmonary function and pulmonary infection |
6.2 | Sleep disordered breathing and hypoventilation |
6.3 | Restless legs and/or periodic limb movements in sleep |
7 | Fatigue |
8 | Pain |
9 | Orthopedic issues |
10 | Endocrine and metabolic issues |
10.1 | Diabetes |
10.2 | Osteoporosis |
10.3 | Assessing nutritional status |
11 | Genetic issues |
12 | Compound heterozygosity |
13 | Family planning and pregnancy |
14 | Mental health issues |
14.2 | Depression |
14.3 | Anxiety |
14.4 | Psychosis |
15 | Presentations to the emergency department |
16 | Digital and assistive technologies |
17 | End of life care |
17.1 | Advance care planning |
17.2 | Palliative care |
17.3 | End of life hospice care |