Treatable Intellectual Disability

Niemann Pick Disease Type C

DIAGNOSIS

Gene
NPC1 NPC2 (AR)

Diagnostic Test
Filipin Staining Test (Fibroblasts) & Gene(s) Analysis

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SIGNS & SYMPTOMS

Neurological
Dementia, psychosis/ (manic-) depression, epilepsy, ataxia, dystonia, supranuclear vertical gaze palsy

Non-Neurological
Cholestatic icterus, cirrhosis, and liver failure

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THERAPY

Treatment
Miglustat

Level of Evidence
1b

Clinical Practice
Standard of Care

Treatment Effect
Stabilizes clinical deterioration; improves neurological manifestations



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Niemann Pick Disease Type C

Niemann-Pick disease type C (completely distinct from types A and B) is a complex lysosomal lipidosis resulting in hepatosplenomegaly and progressive neurological involvement. The estimated prevalence is approximately 1/130 000 births. The clinical picture is extremely heterogeneous, the age of onset varying between the perinatal period and the age of 50 years or more. (Source: Orphanet)

No information available from this source.

This disease is not (yet) listed on their website.