Recently, the Chief Justice of India during a national consultation on children's rights, discussed about nemaline myopathy, a genetic condition affecting his foster daughters.
About Nemaline Myopathy:
It is a rare genetic muscledisorder 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 Currently, treatment for nemaline myopathy is largely symptomatic and focuses on supportive care, including physiotherapy and muscle strengthening exercises.
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