Duchenne Muscular Dystrophy

Also Know As Pseudohypertrophic Muscular Dystrophy

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rare, inherited disease, causing progressive muscle weakness. The decrease in muscle strength begins on the legs. Affected children have difficulty walking (ambulating) and may need a wheelchair before their teenage years.

DMD is inherited in an X-linked pattern. This means that the condition is passed on from the mother with the defective gene, to her children. Her sons have a 50% chance of having the disease. Her daughters have 50% chance of being carriers. Carriers are persons with the defective gene but do not manifest the symptoms themselves.

DMD is due to abnormal changes (mutations) in the gene called dystrophin. Dystrophin helps muscles in your limbs, heart and brain function properly.

Children with DMD may not have any obvious problems at birth. Signs and symptoms may only become apparent when the child starts to walk. The child may walk at a later age than other children. Most children with DMD begin to walk only after 18 months of age.

As the child gets older, his muscle weakness becomes more pronounced, with difficulty doing day-to-day activities such as running or climbing the stairs. He may walk on tiptoes as this helps him stay upright better. Later, the child may also have a hard time getting up from a sitting or lying position. Eventually children with DMD are no longer able to walk on their own and may need a wheelchair.

Although the muscle weakness first affects the legs, muscles on the arms, neck and other areas of the body may also be involved.

Aside from muscle weakness, a child with DMD may have muscle pain and muscle, such as enlarged calves. A spine deformity (scoliosis) may also be noted. Children with DMD also often develop heart and breathing problems.

Tests that a child with DMD may need include tests to assess muscle activity such as serum CPK, ultrasound, electromyography (EMG), and a muscle biopsy. Genetic tests may be done to check for gene mutations that cause DMD. An electrocardiogram (ECG) may be needed to check the child’s heart. A child with DMD may also need to undergo pulmonary function tests in order to determine how his lungs are working.

At present, there is no definite treatment for DMD. There are several studies being done however, on possible medications that may prevent or slow down the development of muscle weakness in children with DMD. Scientists are also studying the possibility of repairing the defective genes in DMD (gene therapy).

A child with DMD may need surgery to correct deformities on his limbs and beck. Regular exercise and physical therapy may help a child with DMD maintain muscle strength and prevent complications. Assistive devices such as a cane, braces or a wheelchair may be used to help the child maintain mobility.

Children with DMD may need medications and devices to help the heart and lungs function properly.

Although there is still no cure for DMD, the child’s physician may suggest measures to help delay the progression of the disease and improve his quality of life.

Public Discussion