Chief Justice of India DY Chandrachud says his daughters have nemaline myopathy: ‘The diagnostic test is so invasive and painful’

DY Chandrachud speaks about his daughters (Express Photo by Tashi Tobgyal)

Taking a cue from Justice Chamdrachud’s revelation, let’s learn about the muscular condition.

Nemaline myopathy, also known as rod myopathy or nemaline rod myopathy, is a rare congenital disorder that affects the skeletal muscles, causing muscle weakness and other associated symptoms.

Dr Mansi Shah, consultant neurologist, Parkinson’s disease and movement disorders specialist, Wockhardt Hospitals, Mira Road, said over time, it starts to weaken the muscles, reducing reflexes to sudden or alarming situations. “Nemaline myopathy is hereditary. This means that if someone from your family or relatives has nemaline myopathy, then you are more likely to develop it, too. It is mainly caused by genetic mutation. It negatively affects the proteins that are needed for the functioning of the muscles,” said Dr Shah.

The term “nemaline” comes from the Greek word “nema,” meaning thread-like, referring to the rod-like structures (nemaline bodies) found in the muscle cells of affected individuals. “The condition is quite rare, occurring in approximately 1 in 50,000 births,” said Dr Manisha Arora, director, internal medicine, CK Birla Hospital, Delhi.

People with this condition may experience various symptoms, including weakness in the face, neck, or trunk, difficulty feeding and swallowing, foot deformities, scoliosis, joint deformities, difficulty breathing, and decreased muscle tone. “However, the severity of the symptoms experienced and the condition may vary from person to person. This is why it becomes essential to diagnose the condition early before it starts to progress,” said Dr Shah.

Your doctor may conduct some physical tests to look for nemaline myopathy. Further, he/she may also recommend some tests for advanced assessment, like genetic testing and muscle biopsy. “Unfortunately, there’s no cure when it comes to treating nemaline myopathy. But with the help of certain treatments, one can try managing their condition and the symptoms,” said Dr Shah.

Dr Shah stressed that one cannot prevent this condition as it is genetic and lifelong. “But people can try treatment options like physical and occupational therapy to strengthen weakened muscles. If your symptoms start to worsen, then consider consulting a doctor for prompt attention,” said Dr Shah.

Various treatments can help manage symptoms and improve quality of life include:

Dr Arora shared:

* Respiratory support, such as non-invasive ventilation (BiPAP) or tracheostomy, to manage breathing difficulties
* Surgery to treat joint contractures or scoliosis
* Feeding support, such as enteral nutrition via tube feeding, for patients with severe swallowing difficulties
* Physical therapy and low-impact exercises to maintain muscle strength and flexibility
* Speech therapy for those with speech difficulties
* Assistive devices, such as crutches, braces, or wheelchairs, to aid in mobility

DISCLAIMER: This article is based on information from the public domain and/or the experts we spoke to. Always consult your health practitioner before starting any routine.