Nemaline Myopathy

Nemaline Myopathy is a rare genetic muscle disorder characterised by the presence of thread-like structures within muscle fibres affecting mobility and functionality.

Nemaline Myopathy

About Nemaline Myopathy:

  • It is a rare genetic muscle disorder characterised by the presence of thread-like structures within muscle fibres affecting mobility and functionality.
  • It is also known as rod myopathy, is a rare congenital disorder that weakens the skeletal muscles.
  • This condition is hereditary, stemming from genetic mutations that impact muscle proteins.
  • It is found in approximately 1 in every 50,000 births.
  • The disorder can vary in severity, ranging from mild cases with minimal impact on daily life to more severe forms that lead to substantial muscle weakness, requiring significant medical intervention.
  • Symptoms
    • Muscle weakness in the face, neck, and trunk, along with difficulties in feeding, breathing, and sometimes deformities.
    • Affected individuals may also experience foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures).
  • Treatment: There is no cure for this disease. Currently, treatment for nemaline myopathy is largely symptomatic and focuses on supportive care, including physiotherapy and muscle strengthening exercises.

Q1: What is genetic mutation?

It is a change to a gene’s DNA sequence to produce something different. It creates a permanent change to that gene’s DNA sequence. Genetic variations are important for humans to evolve, which is the process of change over generations.

News: CJI opens up about foster daughters’ battle with nemaline myopathy. What is this rare disorder?

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