Niemann Pick Disease

Niemann Pick Disease

Niemann-Pick is an infrequent congenital disease affecting body’s ability to metabolize cholesterol and fats within cells. Mainly brain, nerves, liver, spleen, bone marrow and lungs are affected in Niemann-Pick disease. Three types of Niemann-Pick disease are there namely A, B and C depending upon onset of symptoms.

Symptoms

Symptoms include:

• Difficulty in walking and clumsiness
• Dystonia means excessive muscle contraction.
• Disturbance in sleep
• Eating and swallowing difficulty
• Recurrent pneumonia

Causes

Niemann Pick disease results from mutation in the genes which are responsible for the metabolism of fat. It is an autosomal recessive inherited disorder.

Types of Niemann-Pick disease:

• Type A and B: This result from the malfunctioning of enzyme, sphingomyelinase. This result in cell dysfunction and cell death. Type A occur in infants and type B occur in childhood.
• Type C: it is an infrequent inherited disorder. In this type there’s accumulation of cholesterol and other fats in liver, spleen and lungs.

Diagnosis

Diagnosis of this condition depends upon detailed medical history and complete general physical examination of the patient. Other tests include:

• Biopsy of skin and blood samples
• Imaging tests like magnetic resonance imaging (MRI).
• Eye examination
• Genetic testing
• Prenatal testing

Treatment

Treatment options include:

• For mild to moderate type C a drug called misglustat.
• Physical therapy