Recently, parents of children suffering from Niemann-Pick disease have urged the Union government to notify the ailment under the National Policy for Rare Diseases.
About Niemann-Pick Disease:
- It is a rare genetic disorder in which sphingomyelin accumulates in lysosomes inside cells.
- This disease involves dysfunctional metabolism of sphingolipids.
- The three most commonly recognized forms are Niemann-Pick Types A and B and Type C.
- This disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.
- People with this condition experience symptoms related to progressive loss of function of nerves, the brain and other organs.
- It can occur at any age but mainly affects children.
- It is inherited in an c pattern, which means both copies of the gene must be defective to cause the disease.
- Most often, the parents of a child with an autosomal recessive disorder are carriers: they have one copy of the altered gene, but are not affected because the other copy produces the enzyme.
- If both parents are carriers, each pregnancy has a 25% chance of producing an affected child.
- Enlargement of the liver and spleen (Hepatosplenomegaly)
- Low levels of platelets in the blood(Thrombocytopenia)
- Slurring of speech (dysarthria)
- Difficulty in swallowing (dysphagia)
- Abnormal posturing of the limbs, trunk, and face (dystonia).
- Voluntary rapid eye movements (supranuclear gaze palsy).
- Gradual loss of intellectual abilities, causing dementia and seizures
- Types A and B: Mutations in the SMPD1 Gene cause types A and B.
- They produce a deficiency in the activity of the lysosomal enzyme acid sphingomyelinase that breaks down the lipid sphingomyelin.
- Types C: Mutations in NPC1 or NPC2 cause Niemann–Pick disease, type C (NPC), which affects a protein used to transport lipids. It is the most common form of the disease including types C1 (95% of type C) and C2.
- Treatment: No specific treatment is known for type A and B, but symptoms are treated.
Q1) What is genetic disorder?
A genetic disorder is a medical condition caused by abnormalities or mutations in an individual's DNA or genes. These mutations can be inherited from one's parents or can occur spontaneously during a person's lifetime. Genetic disorders can affect various aspects of a person's health, including physical and mental development, organ function, and overall well-being.