Chief Justice of India DY Chandrachud revealed that his daughters suffer from nemaline myopathy, a hereditary condition. He expressed concerns about the highly invasive and painful nature of the diagnostic test. Dr. Mansi Shah, a neurologist and specialist in Parkinson’s Disease and movement disorders at Wockhardt Hospitals, Mira Road, explained that nemaline myopathy is a genetic disorder affecting muscle function.
New Delhi: At a recent event, Chief Justice of India DY Chandrachud shared his personal experience regarding nemaline myopathy, the genetic condition his foster daughters were born with.
He said,
“Our children have been born with a condition called nemaline myopathy. There is a lack of awareness about myopathy among doctors, caregivers, and, certainly, among parents. Everyone lives in a state of self-denial. Families with affected children often feel there is nothing wrong. Even major institutes in India lacked testing facilities.”
He further explained that, where testing is available, like in Lucknow,
“we were told the diagnostic test is so invasive and painful that they would remove a part of the tissue from the child without anesthesia. It’s terribly painful. I still remember the time the test was done for both children. After my older child endured the test, all she could say in her pain was, ‘don’t allow my sister to go through the test.”
He also highlighted the “absence of adequate testing and lack of schools in Uttarakhand” for children with disabilities.
Justice Chandrachud shared these reflections at the 9th Annual National Stakeholders Consultation on ‘Protecting the Rights of Children Living with Disability and Intersectionality of Disabilities,’ organized by the Juvenile Justice Committee of the Supreme Court.
Building on Justice Chandrachud’s revelation, let’s explore nemaline myopathy, also known as rod myopathy or nemaline rod myopathy, a rare congenital disorder affecting the skeletal muscles, leading to muscle weakness and related symptoms.
Dr. Mansi Shah, consultant neurologist and specialist in Parkinson’s disease and movement disorders at Wockhardt Hospitals, explained,
“Over time, nemaline myopathy weakens the muscles, diminishing reflexes in sudden or alarming situations. It is hereditary, meaning that if someone in your family has the condition, you are more likely to develop it. The disorder is primarily caused by genetic mutations that affect the proteins necessary for muscle function.”
The name “nemaline” comes from the Greek word “nema,” meaning thread-like, referring to the rod-like structures (nemaline bodies) found in the muscle cells of those affected. According to Dr. Manisha Arora, director of internal medicine at CK Birla Hospital, Delhi, “This condition is quite rare, occurring in approximately 1 in 50,000 births.”
Symptoms of nemaline myopathy can vary widely but may include facial, neck, or trunk muscle weakness, difficulty with feeding and swallowing, foot deformities, scoliosis, joint contractures, breathing difficulties, and decreased muscle tone.
Dr. Shah noted,
“The severity of the symptoms can differ from person to person, which is why early diagnosis is critical before the condition progresses.”
Doctors may perform physical exams and advanced tests, such as genetic testing or muscle biopsy, to diagnose the condition. “Unfortunately, there is no cure for nemaline myopathy,”
Dr. Shah said,
“But certain treatments can help manage the condition and alleviate symptoms.”
While nemaline myopathy cannot be prevented due to its genetic nature, Dr. Shah emphasized the importance of treatment options such as physical and occupational therapy to strengthen weakened muscles.
She added,
“If symptoms worsen, it’s important to consult a doctor for prompt attention,”
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Dr. Arora outlined various treatments that can help manage symptoms and improve quality of life, including:
- Respiratory support, such as non-invasive ventilation (BiPAP) or tracheostomy, to aid in breathing difficulties
- Surgery to address joint contractures or scoliosis
- Feeding support, like enteral nutrition through tube feeding, for patients with severe swallowing issues
- Physical therapy and low-impact exercises to maintain muscle strength and flexibility
- Speech therapy for individuals with speech difficulties
- Assistive devices, such as crutches, braces, or wheelchairs, to improve mobility
These interventions can significantly enhance the quality of life for those living with nemaline myopathy.