Neimann Pick Disease
Genetics: Neiman pick type A and B are caused by the mutation of SMD1 gene and Neiman Pick type C is inherited by the mutation of NPC1 and NPC2. Neiman Pick is inherited in which lipids get collected in the spleen, liver, and brain cells.
Symptoms: Spleen and liver enlargement, decrease of an appetite, pain in the abdominal, red spot on the eye, Jaundice, Seizures, Tremors, troubles moving the eye up and down, sudden loss of muscle tone, irregular speech, learning difficulties, difficulty of the movement of limbs are all symptoms of Neiman Pick.
Diagnosis and detection: For type A or B the diagnosis is a biopsy of the bone marrow or blood sample. For type C a small sample of skin in tested to see how cells move and store cholesterol.
Treatments: There are no treatments for type A but for type there is a treatment to transplant the bone marrow, enzyme replacement therapy, and gene therapy. For type c there is a new treatment called miglustat. There is no treatment for type D.
Prevalence: Neiman Pick occurs once every 1500 children. Hispanic people are more frequent.
Life expectancy: Usually 2 to 3 years.
No comments:
Post a Comment