Causes and risk factors
Duchenne muscular dystrophy is caused by a defect in gene which is responsible for formation of dystrophin [muscle protein]. It is more often seen in people without a known family history of the condition. It usually occurs in boys.
Clinical presentation
Symptoms occur before 6 years of and may appear as early as infancy. They include – delay in milestones like sitting and walking independently. Patient presents with shoulders and back held backwards when walking, swaying of back; knee of one leg bends to take the weight; toe walking; weak belly muscles thus protruding of belly; thin, weak thighs; awkward, clumsy walking; and foot drop. Muscle weakness starts in the legs and pelvis, but also occurs in the arms, neck, and other parts. Patient faces difficulty in running, hopping, and jumping. He complains of fatigue and frequent falls. Some patients present with mental retardation. Rapidly worsening weakness, progressive difficulty in walking, loss of ability to walk by age 12 is observed. Respiratory muscles may be affected.
Investigation
Medical history by the patient and clinical examination by the doctor helps in diagnosis. Blood test for creatine kinase is done. Electromyography [EMG], muscle biopsy is recommended. Genetic testing is required.
Treatment
Currently, no cure for Duchenne muscular dystrophy is known. Treatment aims at symptomatic relief and to maximize quality of life. Treatment consists of use of corticosteroid medications. Physiotherapy will help to promote mobility and prevent contractures. Orthopedic mechanical aids [such as braces and wheelchairs] may improve mobility and the ability to care for self. Assistive devices for respiratory complications may be needed, especially at night. Surgery may be required for severe contractures and scoliosis.
Other Modes of treatment
The other modes of treatment can also be effective in treating DMD. Homoeopathy is a science which deals with individualization and considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly, the Ayurvedic system of medicine which uses herbal medicines and synthetic derivates is also found to be effective in treating DMD.
