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Type C Niemann-Pick Disease (NP-C) - Symptoms and Treatment


Type C Niemann-Pick Disease (NP-C) is a rare genetic neurological disorder caused by the accumulation of lipids.

Niemann-Pick disease is an autosomal recessive disease, a latent genetic disorder whose first clinical description dates back to the early 20th century and a German physician, Albert Niemann . In the 1930s, a German pathologist, Ludwig Pick The pathologic characteristics of the disease can be linked to the individual. By the late 1950s and early 60s, Crocker and Farber divided into four types (A, B, C, D). Type C Niemann-Pick Disease 50,000-150,000 people out of 1 however, due to the difficulty in diagnosing the disease, it is likely that these values ​​may be higher than the values ​​of those affected.

Type C Niemann-Pick disease

In Niemann-Pick Disease the defect of an enzyme continues to accumulate sphingomyelin (a product of fat metabolism) or cholesterol, which damages the structure and function of cells.The disease most often occurs in infancy and childhood, but may develop in adulthood. The onset of Niemann-Pick type C disease is predominantly between 3 months and 6 years of age, with 60-70% of those affected. Their life expectancy is 8-25 years. The disease is progressive and fatal and results in a high degree of health impairment. The sooner you sign up for neurologists appear, the shorter the patient's life expectancy is.

Symptoms of Niemann-Pick type C disease

Symptoms of the disease are very varied, so NP-C syndrome is often conflated with other neurological disorders and in many cases is not recognized.
Psychiatric symptoms are often the first major manifestations of the disease (especially in adolescent and adult onset disease). It's sick damage to the brain and cerebellum for Causes speech impediments, swallowing disorders, muscle tone disorders, with inability, disability and delicate motor disorders, mental disability and epileptic seizures jбr. Jellemzх tьnet the vertikбlis (leginkбbb the lefelй irбnyulу) szemmozgбszavar the nevetйssel цsszefьggх izomtуnusvesztйs йs the alvбsi cycle megfordulбsa.Az adolescent йs felnхttkori betegsйgkezdet occur esetйn tцbbfйle pszichopatolуgiai tьnet (eg. Hallucinбciуk, kйnyszeres tьnetek, attention deficit disorder, hiperaktivitбs tьnetei, йs depressziуra bipolбris dysfunction emlйkeztetх Among the cognitive impairments are learning difficulties, memory impairment, slowing down of information processing, reduced flexibility in thinking, planning and organizational problems.NPC: speech impediment due to brain and cerebellar degeneration

Diagnosis and treatment of Niemann-Pick type C disease

The diagnosis of NP-C is not straightforward, as it has no specific symptoms, and diagnostic tests can only be performed in specialized laboratories. can be supported by a tissue sample test. Changes in the brain can be detected by elaborate procedures.
Two genes have been identified in the Niemann-Pick disease type C background, the NPC1 gene and the NPC2 gene. Mutations in the NPC1 gene are predominant in affected patients, while NPC2 mutations are a minority of affected patients. All of the genes in Niemann-Pick C disease can be tested by molecular genetic testing. Because this disease is still incurable, treatment is limited to prevention and care of derivativescan cope With the treatment of psychiatric symptoms, medication is needed.

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If a couple had / had a child with C-type Niemann-Pick disease, they should have a significantly increased (specifically 25%) risk of recurrence with each subsequent Niemann-Pick type C disease. For this reason, it is recommended to have a planned childbirth, as well as to consult an advised Genetics Adviser before conception. crooked mutation. If a genetic mutation is identified in any of the genes, then a specific fetal examination may be carried out as a follow-up test.