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?