Muscle Dystrophy

A detailed Summary of Muscle Dystrophy

Muscular dystrophy is a group of progressive, genetic diseases in which the muscles that control movement degenerate and weaken. In some forms of this inherited disease, the heart and other involuntary muscles and organs are affected too.

There are nine types of muscular dystrophy - (1) Myotonic Muscular Dystrophy (2) Duchenne Muscular Dystrophy (3) Becker Muscular Dystrophy (4) Limb-Girdle Muscular Dystrophy (5) Facioscapulohumeral Muscular Dystrophy (6) Congenital Muscular Dystrophy (7) Oculopharyngeal Muscular Dystrophy (8) Distal Muscular Dystrophy (9) Emery-Dreifuss Muscular Dystrophy.

The forms differ in age at which the disease appears, the severity, the muscles affected, the rate of symptom progression and the way the disease is inherited. Some forms only affect males, others affect both male and females. Some sufferers enjoy a normal life span with mild symptoms that progress very slowly while others experience fast and severe muscle weakness and wasting, and die in their late teens to early 20s. Through advances in medical care, children with muscular dystrophy are living longer than ever before.

There are several tests to determine whether one has muscular dystrophy o

CURRENT METHODS AVAILABLE TO TREAT MUSCULAR DYSTROPHY

1. Myotonic (also called Steinert's disease) - The most common form of muscular dystrophy in adults, myotonic muscular dystrophy affects both men and women, an it usually appears any time from early childhood to adulthood. In rare congenital cases, it appears in newborns. The name refers to a system myotomia - prolonged spasm or stiffening of muscles after use. This symptom is usually worse in cold temperatures. Myotonic dystropy results from a gene flaw on chromosome 19, one of the autosomes. The gene containing the defect is for an enzyme recently named myotonin protein kinase.

Another form of congenital dystrophy seems to be related to a deficiency or malfunction of the protein merosin, which normally lies outside muscle cells and links them to the surrounding tissue. The disorder is similarly to Fukuyama dystrophy, with muscle weakness evident at birth or in the first few months of life, severe and early contractures and often joint deformities. This disorder has been named congenital muscular dystrophy with merosin deficiency and appears to be due to an as-yet-unidentified defect on chromosome 6.

2. Duchenne - The most common form found in children, Duchenne muscular dystrophy affects only males. It appears between the ages of 2 and 6. Early signs of Duchenne include frequent falling, difficulty getting up from a sitting or lying position, and a waddling gait. Another hallmark is the apparent enlargement of the calf and sometimes other muscles, which is really due to an accumulation of fat and connective tissue in the muscle. A blood sample shows a very high level of creatine kinase, an enzyme that leaks out of damaged tissue. The muscles decrease in size and grow weaker over time yet may appear larger. Disease progression varies, but many sufferers need a wheelchair by age 12. In most case, the arms and the legs and spine becomes progressively deformed. Some sufferers are mildly retarded. The later stages of the disease are marked by severe breathing and heart problems. Sufferers usually die in their late tee

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