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?