The degree of muscle weakness determines the life expectancy of an individual suffering from Duchenne muscular dystrophy, also induced by complications related to respiratory and cardiac processes. The causes, symptoms, treatments are elucidated below.
Muscular dystrophy is a genetic disorder, classified under 20 categories of which, Duchenne muscular dystrophy is the most common one, and predominantly affects males. It is the result of defects in the production of a protein called dystrophin, found in the muscle fibers. The malady is named after Dr. Duchenne de Boulogne, who pursued the subject during the 19th century. The intensity of respiratory and cardiac complications govern the life expectancy of the patient.
The condition is observed in early childhood itself inflicting weakness of fibrous tissues which affects the proximal muscles of the trunk, hips and shoulders, and gradually leading to loss of ability to walk. It is not observed at birth, but as the child grows, the weakness becomes more and more apparent.
Causes
It is a genetic condition caused by a mutation in the dystrophin gene, which gets inherited in an X-linked recessive manner. Hence, it is more common in males, since they have a single copy of the X-chromosome. This disorder hampers the production of dystrophin, the important muscle protein, eventually causing dissolution of the cells.
Symptoms
The prominent symptom is tendon debility, predominantly affecting the hips, pelvic region, thighs, calf muscles, and the shoulders. These appear at around 1-3 years of age, and the child may face difficulty while walking, running, jumping or climbing stairs. As a result, the child walks in a typical waddling style. Some boys may even begin to walk very late, and as the shoulder tendons become weak, they tend to slip when held up in the arms.
The child’s calf muscles begin to look very bulky, but are forceless. As the child grows, he may have problems getting up, and begins using his hands. This is referred to as the Grower’s sign, indicating that the child needs to support the legs while getting up, causing him to fall more often. The fat and connective tissues begin to replace muscle tissues in the tongue, leading to an enlarged tongue, and speech problems. By the age of 12, the child completely loses his ability to walk, and is confined to a wheelchair.
Treatment
This ailment is not curable. Aimed at improving the quality of life, treatments like physical therapy, braces to improve flexibility and muscle strength, medication like corticosteroids, etc., are employed.
Lifespan
The average lifespan is late teens to mid 30s. In very rare cases, patients may survive up to an age of 40-50 years, with the help of ventilator support, heart medication, proper positioning on the bed, etc.
This is a genetic condition characterized by progressive weakness, that gradually affects the functioning of all voluntary muscles. This leads to respiratory and cardiac complications, which generally prove to be fatal
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a substitute for professional medical advice.
