IllnessMorbus Niemann-Pick type C

NGS +

The symptoms of Niemann-Pick disease types C1 and C2 are very similar, differing only in the two mutated genes. The C1/C2 disease types usually become apparent in childhood, although signs and symptoms can appear at any time. Patients with the C1/C2 types develop ataxia, vertical supranuclear gaze palsy, dystonia, severe liver and interstitial lung disease. These patients also have problems speaking and swallowing. Affected Franko-Acadians were initially designated as type D, but they have also NPC1 mutations like type C1. All affected individuals often have progressive deterioration of intellectual abilities, and about one-third suffer from epilepsy, but may survive into adulthood. The mode of inheritance is autosomal recessive. DNA sequence analysis allows to detect pathogenic NPC1 and NPC2 variants in 76 and 88% of subjects, respectively; duplications/deletions of the two genes account for the remainder of mutations. Inconspicuous genetic findings virtually exclude the clinical diagnosis of suspicion.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1296/

• Alias: Neurovisceral storage disease with vertical supranuclear ophthalmoplegia (NPC1)
• Alias: Niemann-Pick disease without Sphingomyelinase deficiency (NPC1)
• Alias: Niemann-Pick disease, type D (NPC1)
• Niemann-Pick disease, type C1 (NPC1)
• Niemann-Pick disease, type C2 (NPC2)
• Niemann-Pick disease, type D (NPC1)