Severe neurodegenerative syndrome with lipodystrophy

Orpha code: 363400OMIM code: 615924

Definition

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.

Disease data
Classification

Disease

Synonyms
Severe neurodegenerative syndrome due to BSCL2 deficiency
Ciężki zespół neurodegeneracyjny z niedoborem BSCL2
ORPHA code
363400
OMIM code
615924
ICD10 code
G31.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl