Duchenne Μuscular Dystrophy
Duchenne muscular dystrophy (DMD) is an inherited X-linked genetic condition which affects the body muscles causing muscle weakness and eventual death. The disorder is caused by a mutation (fault) in the gene that makes dystrophin protein which is necessary for the muscle cells in order to function properly. In DMD patient muscle cell cannot produce or make very little of this protein leading to muscle damage.
Both sexes can carry the mutation however females rarely exhibit signs of the disease. On the other hand, boys who inherit the defaulted gene will suffer from the disease. DMD is a serious condition whose symptoms usually appear in early childhood (before the age of 5), when a child may show difficulty in standing up, running, jumping and climbing stair.
The muscle weakness develops gradually and the symptoms are mild at the beginning and escalate as the child gets older.As the condition progresses, muscle tissue is replaced by fat and fibrotic tissue and by the age of 10 braces may be required to aid in walking, in fact most patients are wheelchair dependent two years later.
In DMD patients intelligence may or may not be affected. However, if it is affected, does not get worse as the child ages.
The most serious complication, and the usual cause of death, is the respiratory complications. The average life expectancy for patients afflicted with DMD is around 25, however the severity of the disease varies and as a result the individual life expectancy.
There is no cure for DMD at present. However, treatments can help to cope with the symptoms. The only way for parents to avoid passing the mutated gene to their children is to have assisted reproduction in combination with pre-implantation genetic diagnosis for the syndrome.
