Hypomyelination with atrophy of basal ganglia and cerebellum
Synonyms: H-ABC
A rare disorder characterized by slowly progressive spasticity extrapyramidal movement disorders (dystonia choreoathetosis and rigidity) cerebellar ataxia moderate to severe cognitive deficit and anarthria/dysarthria.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Hypomyelination with atrophy of basal ganglia and cerebellum?
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