CJI DY Chandrachud Discloses His Daughters' Have Nemaline Myopathy: Know About This Condition

In a heartfelt address at the 9th Annual National Stakeholders Consultation on Protecting the Rights of Children Living with Disability, Chief Justice of India DY Chandrachud opened up about the challenges his foster daughters face due to nemaline myopathy, a rare genetic disorder that affects muscle function. His candid remarks brought much-needed attention to a condition that often goes unnoticed, both by medical professionals and society at large.

Chandrachud emphasized the critical lack of knowledge surrounding nemaline myopathy, stating, “There is an absence of knowledge about myopathy among doctors, caregivers, and parents. Many families live in self-denial, believing that nothing is wrong with their children.” He recounted the difficulties in accessing proper diagnostic testing, sharing that even in prominent medical facilities, procedures can be excessively invasive and painful. “We were informed that tests would involve taking tissue samples without anesthesia, a distressing experience for both the child and the family,” he recalled.

What is there to know about nemaline myopathy?

Nemaline myopathy, also referred to as rod myopathy, is characterized by muscle weakness and a variety of associated symptoms that can vary significantly from one individual to another. The condition can present at birth or develop later in childhood, with some cases emerging in adulthood. Common clinical features include hypotonia (reduced muscle tone), reduced or absent reflexes, and severe weakness in proximal muscles—those closest to the body’s center, such as the shoulders and pelvis.

Facial muscles can also be affected, leading to distinctive characteristics such as an elongated face, a retrognathic jaw, and a highly arched palate. The varied presentation of symptoms means that early diagnosis is crucial for effective management and support.

The genetic basis of nemaline myopathy involves multiple genes, with at least ten identified as causative. It can be inherited in two main ways: autosomal recessive or autosomal dominant. In autosomal recessive cases, both parents must pass on an abnormal gene for the child to be affected, while in autosomal dominant cases, only one parent’s gene is necessary. This complex inheritance pattern often complicates the understanding of the disorder within families.

Chandrachud’s remarks highlight the urgent need for increased awareness and educational resources surrounding nemaline myopathy, particularly in India. “We need improved facilities and compassionate care for families affected by this condition,” he urged, advocating for better support systems and educational opportunities for children with disabilities.

The conversation surrounding genetic disorders and their impacts on families is also meant to create a more inclusive society. With enhanced knowledge and resources, we can create a more supportive environment for all individuals living with disabilities.