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Dystonia with cerebellar atrophy
- ... movement abnormalities seen in people with rapid-onset dystonia parkinsonism. More About This Health Condition Variants in the ATP1A3 gene can cause a group of features: cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. This specific presentation is ...
- ... of severity, with a condition called hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) at the most severe end of ... Wolf NI, van der Knaap MS. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype ...