Severe neurodegenerative syndrome with lipodystrophy
What is Severe neurodegenerative syndrome with lipodystrophy?
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.
Other condition names
Severe neurodegenerative syndrome due to BSCL2 deficiency