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Muscular dystrophies are inherited diseases that begin in childhood and is characterized by producing an alteration in muscle function progressively. Duchenne’s disease is inherited X-linked This means that the altered gene is located on chromosome X.

The male inherits an X chromosome from their mother and one chromosome from their father, then only one X chromosome, and each son born of a woman with a mutation in one of their two X chromosomes (carrier) has a 50 percent chance of inheriting the faulty gene and developing the disease (50% who will not inherit a healthy male). The daughters have a 50 percent chance of inheriting the mutation and being a carrier (the other 50% are healthy). Carriers usually have no symptoms of the disease, but may have sons and daughters with the disease carriers.

In general the disease is not limited to the muscles, which end up affecting multiple organs, causing serious limitations and ultimately death.

Duchenne dystrophy is characterized by rapid progression of muscle degeneration that occurs in early ages of life.

Rarely do symptoms appear at birth or in early, although some are showing a decreased muscle tone. The progressive nature of the disease is the most characteristic clinical sign.

• In the first detectable infant psychomotor development was normal that manifest in difficulty controlling his head, rolling over itself, sitting and standing, but often begin to walk at the normal age (12 months).

• By the third year, changes usually occur when bending and walking, the protests reached a peak around age 5. The march is clearly pathologic hips swaying. At this stage show hypertrophy (excessive development) of the calf muscles, due to hypertrophy of some muscle fibers, fatty infiltration and fibrosis of the other remaining. At this stage progressive weakness leads them to require a wheelchair, between 7 and 12 years of age to travel. Then there is a proliferation of fibrous connective tissue muscle.

• The disease progresses unabated in the second decade of life, involvement of respiratory muscles is manifested initially as weak and ineffective cough, frequent lung infections. The patient will probably suffer from chronic respiratory failure due to respiratory muscles are not effective to maintain adequate ventilation. Contractures and scoliosis (abnormal curvature of the spine) further compromise lung capacity and even compressing the heart.

• The consistent finding cardiac involvement in this disease, can be of varying severity, but is unrelated to the degree of weakness of skeletal muscles.

Death occurs around 18 years of age for progressive respiratory failure, congestive heart failure, respiratory infections, aspiration (stomach contents over the bronchial tree, etc.).

The disease is suspected by the clinical and elevation of muscle enzymes (elevated CPK (creatine phosphokinase) in the blood). Creatine is an important enzyme that is released from muscle damaged muscle and reaches the bloodstream in children with Duchenne dystrophy. The diagnosis is confirmed by muscle biopsy, which reveals the muscle disorders discussed.

The treatment, currently only consists of support measures: physical therapy and management of complications. In some cases these patients may benefit from noninvasive mechanical ventilation.

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