Disease - Pontocerebellar hypoplasia 2A
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Definition
A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration.
Acronym
PCH2A
Synonyms
PCH2
Pontocerebellar hypoplasia with progressive cerebral atrophy
Volendam neurodegenerative disease
Pontocerebellar hypoplasia with progressive cerebral atrophy
Volendam neurodegenerative disease