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

“There is a lack of information about myopathy among doctors, caregivers and, of course, parents. Everyone lives with the spirit of self-sacrifice. Families where children are born feel that there is nothing wrong with them. Even in premier institutions in India, there were no testing facilities,” he said while speaking at the 9th Annual National Consultative Stakeholder Consultation on ‘Protecting the Rights of Children Living with Disability and the Intersectionality of Disability’.

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

“I still remember the time when both the children were tested. After the elder girl was examined, all she could say in the pain of being subjected to the test was – ‘Don’t allow my sister to undergo the test’,” Chandrachud recalled.

What is nemaline myopathy?,

According to experts, due to Nemaline Myopathy, your muscles become so weak that you are not able to even move your body. Symptoms occur at birth, during childhood, or, rarely, in adulthood. Nemaline myopathy also causes rod or thread-like material to accumulate in your muscles, called nemaline bodies.

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

Most commonly, mutations of Nebula ,chanchu) 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.

Can nemaline myopathy be treated?,

Although there is no cure for nemaline myopathy, doctors recommend focusing on treating your specific symptoms. Most people with the most common form of NM can live full, active lives.

Signs and symptoms of nemaline myopathy

Some of the main symptoms of this condition include:

• decreased muscle tone
• reduced response or no response at all
• persistent muscle weakness
• walking disorder
• delayed motor skills
• difficulty speaking and swallowing
• a long face
• difficulty breathing during sleep
• breathlessness
• abnormal spinal stiffness
• excessive stiffness in your joints
• sunken chest

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