Type: Neurological
CADASIL
Inherited small-vessel arteriopathy causing migraine, recurrent subcortical strokes and vascular dementia.
Creutzfeldt-Jakob disease
Rapidly progressive prion neurodegeneration with dementia, myoclonus and ataxia.
Friedreich ataxia
The most common inherited ataxia; a disease-modifying therapy is now approved alongside supportive care.
Guillain-Barré syndrome
Acute immune-mediated polyradiculoneuropathy with ascending weakness, often post-infection.
Moyamoya disease
Progressive stenosis of internal carotid arteries with compensatory collateral vessels prone to stroke.
Multiple system atrophy
Progressive neurodegeneration with autonomic failure plus parkinsonism or cerebellar ataxia.
Narcolepsy with cataplexy
Chronic sleep disorder with excessive daytime sleepiness and cataplexy from orexin/hypocretin deficiency.
Neurofibromatosis type 2
Schwannoma-predisposition with bilateral vestibular schwannomas, meningiomas and ependymomas.