TAG: GS-2: SOCIAL JUSTICE AND GS-3: SCIENCE & TECHNOLOGY
THE CONTEXT: Chief Justice of India of India discusses nemaline myopathy, a genetic condition affecting his foster daughters.
EXPLANATION:
What is Nemaline myopathy?
- Nemaline myopathy is a rare genetic disorder that primarily affects skeletal muscles, leading to muscle weakness and other related symptoms. Here are some key points about the condition:
- Nemaline myopathy is caused by mutations in various genes that are important for muscle function. These mutations disrupt the normal structure and function of muscle fibers.
- It is a rare disorder, occurring in approximately 1 in 50,000 births.
Symptoms:
- Muscle weakness, particularly in the face, neck, and trunk.
- Delayed motor milestones in infants, such as sitting or walking.
- Difficulty feeding, swallowing, and breathing due to weakened muscles.
- Hypotonia (reduced muscle tone) and joint deformities.
Management: While there is no cure, management strategies include:
-
- Physical therapy to improve strength and mobility.
- Respiratory support if breathing is significantly affected.
- Nutritional support to assist with feeding difficulties.
Awareness and Resources:
- Increased awareness of nemaline myopathy is crucial, as it can lead to better healthcare resources and support for affected individuals and their families.
Treatment:
- There is no cure for nemaline myopathy, but treatment can help people with the condition lead long lives. Treatments are currently aimed at maintaining muscle strength, joint mobility, and respiration.
Source:
Spread the Word