Table 3 Diagnosis
From: Guidelines on the diagnosis and management of the progressive ataxias
Recommendations | Grade |
|---|---|
The clinical context (speed of evolution, episodic/fluctuating versus progressive etc.) should determine the investigation of individual cases. | GPP |
Ataxia in adults can arise due to serious neurological disease and urgent referral for secondary care (to a neurologist) should be made without delay following primary care investigation. | GPP |
Children presenting with ataxic symptoms should be referred urgently for paediatric assessment (usually by local specialists, who may liaise with paediatric neurologists, clinical geneticists, etc). | GPP |
Rapid progression (over weeks or months) can denote a paraneoplastic cause, prion disease or multiple system atrophy, thus urgent investigations are required. | GPP |
When a diagnosis of progressive ataxia is made referral to a Specialist Ataxia Centre is encouraged. | GPP |
Neurologists should liaise with their clinical genetics counterparts given the potential implication for family members of patients who undergo genetic testing. | GPP |
Informed consent should be sought from all those undergoing genetic testing. | GPP |
It is essential to offer genetic counselling to patients and discuss the implications of a genetic test prior to testing. | GPP |
Genetic counselling should include the implications of having a genetic test for the individual and their family and any reproductive choices they may make. | GPP |
Asymptomatic ‘at risk’ subjects should be offered genetic counselling. | GPP |
Genetic testing of asymptomatic ‘at-risk’ minors is not generally recommended, but should be considered on a case-by-case basis. | GPP |
Any genetic test results from research studies need to be validated by an accredited laboratory before a formal result is given to the patient. | GPP |