14 Nov 2024        11:26:43 am

Science

Nemaline myopathy

Tags : Nemaline myopathy

Topic: Health

Why in the news?

• Chief Justice DY Chandrachud shared the challenges faced by his foster daughters, who are battling a rare congenital disorder called nemaline myopathy, a condition that affects muscle proteins, leading to muscle weakness and difficulties with feeding and breathing.

Source: The Indian Express

About Nemaline myopathy:

• It 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:
• It 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.
• 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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