Buy 2-year plan with SD20 code

Journalism of Courage
Advertisement

Duchenne Muscular Dystrophy: What this rare disorder, shown in Kajol’s Salaam Venky, means

With advancements in cardiac and respiratory care, life expectancy of DMD patients has increased to the 30s and 40s now, says Dr Akhilesh Yadav, Associate Director, Orthopaedics & Joint Replacement, Max Super Speciality Hospital, Vaishali

Duchenne Muscular Dystrophy (DMD) is a genetic disorder that is characterised by growing muscle degeneration and weakness due to changes in a protein found in the body called Dystrophin, which helps in maintaining healthy muscle cells. (Photo: Kajol/Instagram)
Listen to this article Your browser does not support the audio element.

Written by Dr Akhilesh Yadav

The film Salaam Venky presents an incredible story of resilience about a 24-year-old youth who has Duchenne Muscular Dystrophy or DMD, a rare but severe form of muscular dystrophy with no cure. According to Johns Hopkins medicine, it mostly affects boys and occurs in one in 3,500 to 5,000 new-borns. There is no higher risk for any ethnic group. Children affected by DMD may have some degree of cognitive problems, yet some have average or even higher-than-average intelligence.

Understanding Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is a genetic disorder that is characterised by growing muscle degeneration and weakness due to changes in a protein found in the body called Dystrophin, which helps in maintaining healthy muscle cells. DMD comes under dystrophinopathies and is one of three conditions present in this group along with Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy (DCM), all of which are an X-linked muscle disease ranging from mild to severe. The onset of this genetic disorder is generally in early childhood, usually between the ages of two and three, and is typically known to affect boys. Rare cases of women diagnosed with DMD have also been reported but the number is still very insignificant.

Subscriber Only Stories

What are symptoms?

The most common and primary symptom of DMD is muscle weakness. The disorder attacks the proximal muscles (muscles closer to the core) of the body first, later moving towards the distal limb muscles (those close to the extremities). Typically, legs and the lower external muscles are affected before the arms and the upper external muscles. A child affected by DMD can have difficulty jumping, running and walking with several other symptoms like enlargement of the calves or lumbar lordosis (inward curve of the spine). It is also worth noting that boys with DMD are usually late walkers. The symptoms worsen as the person ages with heart and respiratory muscles getting affected in the later stages of life. In some cases, scoliosis and progressive weakening of the muscles leads to pulmonary function impairment. eventually causing acute respiratory failure.

What causes DMD?

DMD is caused due to the DMD gene failing to produce any functional dystrophin because of mutations in the dystrophin gene, found in the X chromosome. Dystrophin is a protein that maintains structural integrity in muscle cells and is subject to mutations that can either be inherited or arise spontaneously during germline transmission.

Women are usually carriers of the genetic trait and aren’t aware of carrying a mutation until they have an affected son. A carrier mother’s son has a 50 per cent possibility of inheriting the defective gene from her while the daughter of a carrier mother has a 50 per cent chance of carrying the gene in two healthy copies and a 50 per cent chance of becoming a carrier herself. An unaffected father always either transmits a normal X to his daughter or a normal Y to his son.

Advertisement

What’s the diagnosis?

A thorough clinical assessment, a complete review of the patient’s medical history along with a number of specialist testing, including genetic tests, are used to diagnose DMD. Surgical removal and microscopic examination (biopsy) of the damaged muscle tissue can also be done to find distinctive alterations to the muscle fibres if the genetic testing is inconclusive. There are also specialised blood tests that assess the presence and concentrations of certain proteins in muscle.

What about treatment protocols?

Till now there has been no conclusive cure for DMD with the life expectancy of boys with DMD beyond their teen years very minimal. But with advancements in the field of cardiac and respiratory care, life expectancy has increased and many young adults with DMD are able to follow a normal life. Survival into the early 30s and 40s has become very common.

Advertisement

Treatment modules include physical therapy, several other medications, which help in strengthening the muscles, aimed towards controlling the symptoms as well as maximising the quality of life in patients with DMD. Physical, non-jarring activities also help in maintaining muscle strength, flexibility, and function.

First published on: 09-12-2022 at 18:00 IST
  • 0
Next Story

Weekend getaway: These hangout spots serve Pune food culture on your plate

Tags:
  • disease muscle
Home
ePaper
Next Story
close
Express PremiumHow Microsoft's AI chat-powered Bing could change the way world searches for information
X