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Muscular Dystrophies Information

  • The muscular dystrophies are a group of genetic and hereditary muscle diseases; characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. In some forms of muscular dystrophy, cardiac and smooth muscles are affected. The muscular dystrophies are the most-known hereditary diseases...
  • There is no known cure for muscular dystrophy. Inactivity (such as bed-rest and even sitting for long periods) can worsen the disease. Physical therapy and orthopedic instruments (e.g., wheelchairs, standing frames) may be helpful.

    Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an inherited disorder characterized by rapidly progressive muscle weakness which starts in the legs and pelvis and later affects the whole body. Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy. It usually affects only males, but in rare cases it can also affect females. It is an X-linked recessive inherited disease. A milder form of this disease is known as Becker's muscular dystrophy (BMD). In Becker muscular dystrophy, most of the symptoms are similar to Duchenne, but the onset is later and the course is milder.

    Limb-girdle muscular dystrophy or Erb's muscular dystrophy is a type of muscular dystrophy that includes Duchenne muscular dystrophy, Becker's muscular dystrophy, and a large number of rarer disorders. The term "limb-girdle" is used to describe these disorders because the muscles most severely affected are generally those of the hips and shoulders -- the limb girdle muscles. Common symptoms of limb-girdle muscular distrophy are muscle weakness, myoglobinuria, pain, myotonia, cardiomyopathy, elevated serum CK, and rippling muscles. The muscle weakness is generally symmetric, proximal, and slowly progressive.

    Congenital muscular dystrophy is the collective term used to describe muscular dystophy present from at or near birth. All such known dystrophies are genetically recessive in nature and result from mutation in a variety of different genes including those encoding the laminin alpha 2 chain, fukutin related protein, LARGE and fukutin amongst others.Currently there is no cure physical and occupation therapy, surgeries, wheelchairs and other assistive technology may be helpful.

    There is no specific treatment for any of the forms of muscular dystrophy. Physical therapy to prevent contractures (a condition in which shortened muscles around joints cause abnormal and sometimes painful positioning of the joints), orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemaker. The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine, phenytoin or mexiletine.

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