Spinocerebellar ataxia type 42

Orpha code: 458803OMIM code: 616795

Definicja

Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.

Disease data
Klasyfikacja

Disease

Synonimy
SCA42
SCA typ 42
Kod ORPHA
458803
Kod OMIM
616795
Kod ICD10
G11.8
Kod ICD11
-

No additional description.

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