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:
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- 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.
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