Duchenne Muscular Dystrophy

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February 13th is the first day of Duchenne Muscular Dystrophy Awareness Week. Here are some facts on Duchenne Muscular Dystrophy:

  • It is one of the nine types of muscular dystrophies
  • Duchenne muscular dystrophy was first described by French neurologist, Guillaune Benjamin Amand Duchenne in the 1860’s.
  • It is an inherited disorder
  • It is caused by an absence of dystrophin, a protein that bonds the muscle cell
  • It is characterized by progressive muscle degeneration
  • It occurs in about 1 out of every 3,600 male infants
  • Risks include a family history of Duchenne muscular dystrophy
  • Symptoms start appearing between the ages of 3-5.
  • By the age of 12, most males affected may lose their ability to walk
  • Breathing difficulties and heart disease usually start by the age of 20
  • Very rare are females affected by the disease.
  • Early symptoms include muscle weakness in the hips, pelvic area, thighs and shoulders.
  • By teen years, the heart and respiratory muscles are affected.
  • Duchenne muscular dystrophy carriers are females with one normal dystrophin gene on one x chromosome and an abnormal dystrophin gene on the other x chromosome
  • Most carriers do not show any signs or symptoms.
  • Affected children may have delayed motor skills including sitting, standing and walking.
  • Survival into the early 30’s is becoming more common due to advances in cardia and respiratory care.
  • Duchenne is associated with a heart disease that weakens the cardiac muscle
  • Between 400 and 600 boys in the United States are born with these conditions each year.
  • there are a few cases which results from new mutations in affected males
  • steroid drugs can slow the loss of muscular strength
  • There is no known cure for Duchenne muscular dystrophy
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