For the condition muscular dystrophy that has no cure, prenatal genetic counselling is the only recourse.
Muscular dystrophy refers to a group of diseases characterised by the progressive loss of muscle mass and the consequent loss of strength. It is caused by a genetic mutation that leads to a deficiency in the proteins required for the development of healthy muscles.
In India, its incidence is one in 3500, and it’s predominantly found in males. Genetic counselling is one of the most important steps in detection, and symptoms may present themselves during childhood or adulthood, explains Dr Deepika Sirineni, a senior consultant neuro physician at Apollo Hospitals.
Q. Why is muscular dystrophy predominantly found in males?
The disease is largely seen in males as they have a single X chromosome inherited directly from the mother, and the disease has an X-linked recessive inheritance pattern.
For this reason, genetic counselling, in which tests are carried out on foetal cells obtained from the womb, is recommended for pregnant women who have a family history of muscle wasting.
Q. When should the tests be carried out?
The tests are usually done around the 15th week of pregnancy. If the test turns out to be positive, then the family has the option of terminating the pregnancy. But awareness among Indian families is very limited. It is only in cases in which the first child is born with this condition that testing is carried out during the second pregnancy.
Q. What does the diagnosis involve?
Diagnosis is based on the results of a muscle biopsy, creatinine phosphokinase 3 levels, electromyography and genetic testing. DNA tests give us an insight into the genetic material.
We find that people are unwilling to accept the diagnosis, and they do not trust the doctor’s judgement. A child may appear to be healthy at birth, but muscle wasting could begin at 3-5 years of age. That could be traumatic for parents and family members.
Q. Are there medicines that can prevent or delay the wasting of muscles in patients diagnosed with muscular dystrophy?
Currently, there is no cure for muscular dystrophy. However, therapeutic management with physical therapy, occupational therapy, speech therapy, respiratory therapy and orthotic intervention have been found to be helpful. Other treatment options include splints, physiotherapy, physical exercise and steroids. Low-intensity steroids can help maintain muscle tone.
Q. What is the life expectancy of a person diagnosed with muscular dystrophy?
There are different types of muscular dystrophy. In some cases, the patient gets progressively weaker to the point where his lifespan is shortened due to heart and breathing complications. In cases where symptoms begin to manifest at the age of three or four years, the patient may die in his teens or early 20’s. However, in some cases, the muscle disease does not affect life expectancy. The disease may progress slowly, and the person may live to a much older age. There is research being done to find cures and treatments to slow down muscle weakness. Meanwhile, treatment is aimed at controlling the symptoms.
Q. Is stem cell therapy an approved course of treatment for this disease?
No, the use of stem cells for the treatment of muscular dystrophy is not approved. There are a lot of clinical trials being carried out, but it cannot be claimed to be a cure for the disease.
Symptoms of muscular dystrophy in children: