Muscular Dystrophy

The term muscular dystrophy refers to a group of more than 30 genetic diseases that cause progressive weakness and degeneration of skeletal muscles used for voluntary movement. These diseases range in age of onset, severity, and pattern of the affected muscles. All forms of muscular dystrophy get worse as muscles progressively degenerate and weaken. Most patients eventually lose the ability to walk.

Some types of muscular dystrophy also affect the heart, gastrointestinal system, endocrine glands, spine, eyes, brain and other organs. Respiratory and heart diseases are common, and some patients may develop swallowing problems. Muscular dystrophy is not contagious and can not be acquired through injury or some activity.

Causes

All types are inherited muscular dystrophy and involve mutation of one of thousands of genes that program proteins, which are critical for muscle integrity. The body cells do not function properly when proteins are affected or produced in insufficient quantities. Many cases of muscular dystrophy occur as a result of spontaneous mutation, which is not found in the genes of either parent, and this defect can be passed to the next generation. Genes contain coded messages that determine the characteristics of a person and are arranged in 23 pairs of chromosomes with half of each pair inherited from each parent.

Muscular dystrophy can be inherited in three ways:

* Autosomal dominant inheritance occurs when a child receives a normal gene from one parent and the other I flawed. It's called "dominant" because only one parent needs to pass one abnormal gene to produce muscular dystrophy. In families where one parent carries the defective gene dominate, each child has a 50% chance of inheriting it, and thereby develop muscular dystrophy. Men and women have equal risk and severity of the disease varies from person to person.

* Inheritance Autosomal recessive means that both parents must carry and pass the defective gene. Every parent has a defective gene, but do not develop muscular dystrophy. Children in these families have a 25% chance of inheriting both copies of the defective gene and thus develop the disease, and 50% chance of inheriting only one gene and thereby develop muscular dystrophy but not be able to pass this defective gene to the next generation . Children of both sexes can be affected by this inheritance pattern.

* Sex-linked recessive inheritance occurs when a mother carries the gene affected in one of two X chromosomes and is the son (men always inherit the X chromosome from the mother and father of Y, while women inherit the X chromosome from both parents) . Men whose mothers carriers have a 50% chance of inheriting the disease. Women of surrogate mothers daughters have a 50% chance of inheriting the defective gene, but usually do not develop the disease since the X chromosome inherited from the father can compensate defective. Women with the defective gene may occasionally exhibit mild symptoms of muscular dystrophy.

Treatment

There is no specific treatment that can stop or reverse the progression of any type of muscular dystrophy. All forms of muscular dystrophy are genetic and can not be prevented. Treatment for muscular dystrophy patient seeks to maintain the independent as long as possible and prevent complications resulting from weakness, reduced mobility and heart and respiratory difficulties. Treatment may involve a combination of actions such as physical therapy, medication and surgery.

Assisted ventilation is often required to treat respiratory weakness that accompanies many forms of muscular dystrophy, especially in the later stages. Therapy with medications may be prescribed to delay muscle degeneration. However, medicines can have side effects such as weight gain and bone fragility that can be problematic especially for children. Antibiotics can be used to treat respiratory infections.

Therapy can help prevent deformities, improve handling and keep the muscles as flexible and strong as possible. Physical therapy should begin as soon as possible after diagnosis, before it occurs rigidity of muscles and joints.

Changes in diet showed no effect in decreasing the progression of muscular dystrophy. However, proper nutrition is essential for overall health. The limitation of mobility resulting from muscle weakness may contribute to obesity, dehydration and constipation. A diet with fewer carbohydrates and high in fiber eproteínas, combined with appropriate fluid intake, can help. Patients with muscular dystrophy have trouble swallowing or breathing, and those who have lost the ability to walk independently, should be monitored for signs of malnutrition.

Occupational therapy can help some patients cope with progressive weakness and loss of mobility. Some people may need to learn new jobs and other tasks, while others need to switch jobs. Help may include technological changes in the arrangement of home and work, as well as use of motorized wheelchair, wheelchair accessories and utensils adaptados.Cirurgia corrective is often done to relieve the complications of muscular dystrophy.