Severe neurodegenerative syndrome with lipodystrophy
Synonyms: Severe neurodegenerative syndrome due to BSCL2 deficiency
Severe neurodegenerative syndrome with lipodystrophy is a rare genetic neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia spasticity loss of language mild to severe intellectual disability pyramidal and extrapyramidal signs and frequently development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy hepatomegaly hypertriglyceridemia and muscular hypertrophy. Hyperactivity tremor and development of seizures may also be associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Severe neurodegenerative syndrome with lipodystrophy?
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Genetic Support Network of Victoria
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