The Chief Justice of India recently spoke about the genetic condition his foster daughters are grappling with. Speaking at a recent conference organized by the Supreme Court, DY Chandrachud said the girls – Mahi and Priyanka were born with nemaline myopathy - a rare, neuromuscular disorder that affects skeletal muscles, causing weakness and other symptoms.

“There is the absence of knowledge about myopathy among doctors, caregivers, and certainly, on the part of the parents. Everyone lives with a feeling of self-denial. The families where the children are born feel nothing is wrong with them. There were no testing facilities even in major institutes in India,” he said, speaking at the 9th Annual National Consultation Stakeholders Consultation on ‘Protecting the Rights of Children Living with Disability and Intersectionality of Disabilities’.

Chandrachud said even at the places where testing facilities for the condition – which causes severe weakness in muscles of the face, neck, trunk, upper arms, and legs, the tests are highly invasive and painful. “They would remove a part of the tissue from the child without anesthesia. It’s so painful,” he said.

“I still remember the time the test was done for both children. After the older child underwent the test, all that she could say in that sense of pain, suffering from the test — ‘Don’t allow my sister to go through the test’,” Chandrachud recalled.

According to experts, nemaline myopathy causes your muscles to become so weak that you are not able to move your body. Symptoms occur at birth, during childhood, or, rarely, in adulthood. Nemaline myopathy also leads to rod- or thread-like materials known as nemaline bodies in your muscles.

As it is a rare condition, experts estimate that NM occurs in 1 out of 50,000 live births. However, 1 out of 500 people in the Amish community may have it. Also known as congenital rod disease or nemaline body disease, the condition is mostly inherited due to one or more gene changes or mutations that are passed down from one generation to another. Less commonly, it also occurs when one parent passes down an abnormal gene - an autosomal dominant genetic condition - that spontaneously occurs in an egg or sperm cell.

Most commonly, mutations of the nebulin (NEB) or actin alpha-1 (ACTA1) genes cause nemaline myopathy. Nebulin and actin are proteins that are part of the sliding molecular machinery that shortens muscles.

While there is no cure for nemaline myopathy, doctors advise focusing on treatment focuses of your specific symptoms. Most people with the most common form of NM can lead full, active lives.

Signs and symptoms of nemaline myopathy

A few main symptoms of the condition include:

Get Latest News Live on Times Now along with Breaking News and Top Headlines from Health and around the world.