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What is Niemann-Pick Disease – Symptoms and Treatment

Niemann-Pick disease is a group of metabolic disorders caused when fat in excess measures is collected in the organs like the spleen, liver, lungs, bone marrow, and brain. It is a genetic disease in which the parents can serve as only the carriers of the gene responsible for the condition. In such a case, the offspring is affected with no signs of the condition in the parents.

Symptoms of Niemann-Pick Disease:

  • Enlargement of liver
  • Enlargement of spleen
  • Abdominal pain
  • Reduction in appetite
  • Slurring of speech
  • Unsteady gait
  • Difficulty in swallowing
  • Impaired, rapid and voluntary eye movements
  • Abnormal posturing of the limbs, trunk and face
  • Seizures
  • Dementia
  • Sleep related disorders
  • Sleep inversion – Lack of sleep at night and feeling sleepy at day time
  • Sudden loss of muscle tone along with laughter

There are three forms of this disease, namely, type A, type B and type C. The prognosis of type A is very poor with the patient surviving not more than 18 months of diagnosis of the condition. Type B and Type C have better chances of outlook as the patient can survive upto teenage or early adulthood.

Treatment of Niemann-Pick Disease:
Unfortunately, the treatment of the disease is not well developed. Available options are costly and limited by nature. Organ transplant, enzyme replacement and gene therapy and bone marrow transplant are some of these methods.

Good diet, drugs, consultation with the doctor and physical therapy help in improving the quality of life. There are few research drugs undergoing trails in the laboratory and awaiting their approval from the Food and Drug Administration.

In January 2009, the drug the drug Zavesca (Miglustat) was approved in the Europe for treating type C form of the disease. It is not approved in the United States yet. However, on May 17, 2010, the FDA granted and designated hydroxy-propyl-beta-cyclodextrin drug as a treatment for Niemann Pick disease type C.

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