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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