Muscular Dystrophy

General Illness Information

Medical Term: Muscular Dystrophy

Common Name: None Specified

Description: A group of inherited muscular disorders, especially of the extremities, pelvis, and hips.  It is characterized by progressive muscle weakness.  It typically presents in boys aged 3 to 7 years.

There are 9 forms of Muscular Dystrophy, with the major 2 being Duchenne’s Muscular Dystrophy and Becker’s Muscular Dystrophy.  These are inherited through the X-chromosome, affect only males, and are transmitted by females.

Causes: Muscular dystrophy is a genetic abnormality. Both Duchenne’s and Becker’s types involve the same gene on the X chromosome, but the actual genetic defect is different.

Females (who have two X chromosomes) can carry the disease on one X chromosome, and not have the disease. Their male offspring, however will have the disease if the affected X chromosome is passed on to them.

Prevention: Genetic counseling is necessary if there is a family history of muscular dystrophy. Female carriers can be detected with medical testing, because their blood contains high levels of a particular enzyme.

Signs & Symptoms

Early symptoms:

  • Weakness.
  • Waddling gait.
  • Frequent falling spells, with difficulty getting up.
  • Muscles that appear larger and stronger but are weaker than normal. (Fatty and fibrous infiltration of muscle).

Late symptoms:

  • Muscle deterioration severe enough to require confinement to a wheelchair by age 9 to 12.
  • Severe distortion of the body.
  • Kyphosis.
  • Recurrent lung infections.
  • These symptoms are less pronounced in Becker’s dystrophy.

Risk Factors

Family history of muscular dystrophy.

Diagnosis & Treatment

Diagnostic tests include laboratory studies of muscle enzymes in the blood and muscle biopsy .

General Measures:

  • The child should learn deep-breathing techniques.
  • The child should stay active in school as long as possible.
  • Surgical release of contractures or fixation of joints.
  • Respiratory support at night.
  • Psychotherapy or counseling to learn ways to cope with disability and to adjust socially.
  • Nursing-home care, if the patient’s needs exceed the resources available at home.

Medications:

  • As yet, there is no medication to treat or cure this condition.
  • Treat symptoms adequately-antibiotics for bacterial infections, stool softeners for constipation.

Activity:

The child should be as physically and mentally active as possible. Many mechanical devices can help overcome handicaps caused by weakness. If the child cannot voluntarily move muscles groups, family members or a visiting nurse should massage and passively exercise them to prevent contractures. Long periods of inactivity or bed rest should be avoided.

Diet:

No special diet. Obesity should be avoided, because it adds stress to weakened muscles.

Possible Complications :

  • Frequent fractures or injuries from falls.
  • Spinal curvature caused by weakened muscles of the spine.
  • Pneumonia caused by weakened chest muscles and a diminished cough response.
  • Muscles shortening (contractures).
  • Pressure sores.

Prognosis

  • Duchenne’s dystrophy is currently considered incurable. Persons with this condition rarely reach adulthood.
  • Becker’s dystrophy carries a better prognosis.

Other

Nothing Specified.

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