Duchenne muscular dystrophy

Delayed walking and frequent falls, ending in a wheelchair to a certain age. There is no doubt Duchenne, the disease is only boys
What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a hereditary neuromuscular disease. This is a decrease in resistance of the body muscles during exercise, due to degeneration of muscle fibers. Also referred to as Duchenne muscular dystrophy.

Duchenne muscular dystrophy mainly affects boys, but is transmitted by women (especially since it is linked to the X chromosome). The disease develops in childhood and gradually throughout life.

What is the mechanism of Duchenne muscular dystrophy?

The disease is mainly caused by a deficiency or alteration in dystrophin, a protein that is involved in the structure and strength of the muscle fibers. This dystrophin deficiency then causes muscle weakness in efforts contraction, moving clearly towards degeneration and progressive muscle atrophy. Anomalies encountered in the dystrophin is secondary to a mutation in a gene defect.

Duchenne muscular dystrophy can affect all body muscles. Reaching the heart and respiratory muscles (including the diaphragm) remain the most serious and fatal.

What are the symptoms of Duchenne muscular dystrophy?

Duchenne muscular dystrophy usually occurs in children around the age of 3 years (always detected before age 5) by a symmetrical muscle weakness.

This weakness is often detected by a delay in walking, with frequent falls. Gradually, it has a swelling in the calves with damage to the muscles of the limbs, and trunk (loss of muscle tone of the trunk and arms). This causes difficulty walking and a limitation of movement of the body, including the upper limbs. Climbing stairs is nearly impossible.

The impossibility of walking is recognized at the age of 9 years, while requiring the use of a wheelchair to ensure the autonomy of the child.

Atrophy of the muscles of the trunk can cause deformation of the vertebral column type of scoliosis. However, this sign appears later.

Involvement of respiratory muscles increases the risk of bronchopulmonary infections reaching the diaphragm can cause severe respiratory failure. Reaching the heart muscle also remain serious. They often manifest as abnormal heart rhythms, and can progress to heart failure.

Involvement of different muscles can be complicated by stiffness of the joints, including the ankles, knees, wrists, elbows, joint stiffness ... This is mainly due to a lack of muscle and joint activities.

Duchenne muscular dystrophy: a still limited treatment ...

Due to the existence of multiorgan child, Duchenne muscular dystrophy requires a multidisciplinary approach: orthopedics, pulmonology, cardiology, physiotherapy, pediatrics, nutritional support, ...

Currently, there is still no treatment that can effectively cure the disease.

Prescription drugs can however slow the progression of the disease and improve the quality of life of the child. The use of these drugs require a proper assessment of benefits and risks by physicians, given the observed side effects. These treatments should be combined with methods of re-education as physiotherapy, massage therapy or even.

Surgery may be a last resort after failure of rehabilitation methods.

The equipment may be necessary to ensure autonomy of the child in the movements and displacements.

Ventilation and chest physiotherapy treatments are also important in the management to clear the airway, ensure adequate oxygenation and reduce the risk of lung infections.

Nutritional support is also needed in the correction of adequate nutrition in patients with impaired swallowing and chewing.

Several clinical trials of gene therapy are currently underway and are a source of hope for patients with the disease.