Severe neurodegenerative syndrome with lipodystrophy

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Severe neurodegenerative syndrome with lipodystrophy?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.