Chief Justice of India DY Chandrachud recently spoke about nemaline myopathy, the genetic condition his foster daughters were born with. “Our children have been born with a condition called nemaline myopathy. There is absence of knowledge 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.
Understanding nemaline myopathy
Nemaline myopathies are a form of congenital myopathy marked by rod-like projections in muscle cells. Nemaline myopathies are extremely rare, affecting around one in every 50,000 persons.
Symptoms
Muscle fatigue,Facial weakness, Cardiac problems, Difficulties in swallowing and breathing.
“There are many types of myopathies, one of them is Nemaline myopathy — it is a genetic disorder which is caused by changes in specific genes which produce proteins important for muscle function like skeletal a-actin (ACTA1) and nebulin (NEB) genes,” says Dr Annie Q Hasan, Sr Consultant & HOD, Department of Genetics and Molecular Medicine, Kamineni Hospitals.
Diagnosis
“It involves a combination of clinical, laboratory and genetic tests, but the most important aspect is for parents/caregivers and healthcare providers to have a level of suspicion if a child is not performing age appropriate functions eg head holding, sitting, standing, walking, etc.,” says Dr Annie. Nemaline myopathy can be inherited in two ways: (i) Autosomal Recessive, where the parents are carriers having one gene altered and appear normal, while both copies of the altered gene are present in the affected child. This type of inheritance is increased in consanguineous (marriages in relative).
“Since there is no curative treatment for nemaline myopathy, prevention can be achieved by screening couples prior to planning pregnancy especially in communities where consanguinity is favored,” says Dr Annie.
