Duchenne muscular dystrophy is a fatal disease affecting one in 5000 live male births

*By Dr.Vineeth Jaison

Birth of a boy brings great joy in our society. This joy turns into a nightmare if the boy has Duchenne muscular dystrophy. Families affected by this disease often lead to marital discord and severe emotional trauma. A family who had two boys born with Duchenne muscular dystrophy resulted in the father abandoning them and later the mother committed suicide. Very often these children are forced to drop out from school due to their physical disability despite being good in studies.

Duchenne muscular dystrophy is a fatal disease affecting one in 5000 live male births. This disease causes increasing weakness overtime with wasting of muscles. It is a genetic disease passed on from the mother (carrier) to the son. In 35% of cases it may be spontaneous mutations meaning that anyone can be born with the disease. The genetic defect is a protein (dystrophin) present in the muscle which is abnormally formed, resulting in rapid breakdown of the muscle with usual wear and tear. These muscles are not able to tolerate the normal activites that young boys do and causes early and rapid breakdown of muscle. The muscle that replaces this is also deficient in dystrophin resulting in progressive weakness of arms and legs. This can affect the heart and lung muscles as well.

The parents notice that the child
• Starts to walk later in life than normal.
• Has an abnormal style of walking “like a duck” and has toe walking with his heels not touching the ground.
• By age 3-4y he has difficulty in getting up from floor and is forced to climb onto himself using his hands and develops leg (calf) muscle hypertrophy.
• By age 12y many are unable to walk and need a wheelchair.
• Most children in India don’t live to see their 20th birthday and die of respiratory or cardiac ailments.

The family caring for a child with this disease faces a terrible ordeal of watching him become increasingly dependent on others for even routine activities like dressing, combing, bathing and walking. The desperate parents seek medical help from quacks, spiritual healers and doctors. They can sometimes get misled and end up spending huge sums in clinics with unproven therapy and are often left discouraged and bankrupt, having to care for their child on their own. The distraught parents seeking a cure for this disease are often given a nihilistic “NO CURE.”

Medical science has progressed tremendously in the last 10 years and though a cure is not on the horizon there is treatment available which benefits these patients.

Today the standard of care for children with Duchenne’s is dedicated multidisciplinary care with close involvement of highly specialized professionals in fields of medicine like Neuromuscular specialist (Neurologist), Physical and Medical rehabilitation experts, Pediatrician, Spine surgeon, orthopedician, respiratory therapist, cardiologist, endocrinologist, palliative care experts and social workers.

With the use of easily available medicines under proper supervision in the best of centers the doctors are able to maintain independent walking and delay the use of a wheelchair by 2-4 years, more importantly the life expectancy has significantly increased. The key to this success has been early diagnosis and initiation of therapy.

Newer therapies on the horizon are gene therapy which have been approved by FDA but is applicable only to a select group of patients. The cost of gene therapy however is not within the reach of the common man. Several new therapies are being actively researched.

Every family with a child who has such a disability has the right to see their child grow and live an independent life, attend school, have friends, receive holistic education and have access to the finest healthcare this world can provide. We dream to see these children economically and physically independent so that they regain their dignity in society and contribute just like any one of us.

(4th World Duchenne Day falls on 7th September,2018)

*The Author Dr.Vineeth Jaison is a Neurology Doctor at CMC Hospital, Brown Road, Ludhiana. Punjab.