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Welcome, medical contents search April 25, 2013
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Myotonic Dystrophy

more about Myotonic Dystrophy

  • Myotonic dystrophy is a disorder in which the relaxation of the muscles is delayed due to the defect of the muscle on the cell membrane. Myotonia refers to the delayed relaxation following a muscle contraction.

  • The onset age is usually young adults, but it can occur as a congenital form (congenital myotonic dystrophy) or after 40-50 years old.
  • Muscle stiffness is due to a delayed relaxation of contracted muscles -- difficult release following a tight hand grip.
  • Muscle stiffness is aggravated by exposure to the cold
  • Weakness and wasting of facial muscles, sternocleidomastoid muscles of neck, muscles of distal limbs
  • Difficulty in sucking, chewing, blowing up balloons or whistling
  • Associated problems -- cataracts, frontal baldness, intellectual dysfuction, testicular atrophy and cardiac abnormalities

  • Myotonic dystrophy is a genetic disorder that results from the abnormality of the gene located on chromosone 19, and is inherited by an autosomal dominant trait.

  • Family and medical history
  • Physical examination reveals the evidence of myotonia and muscle weakness
  • Electromyography
  • Muscle biopsy

  • Presently, there is no treatment available. There are medications that may suppress the myotonia, but it does not change the natural course of the disease.

  • The symptoms and natural course of the disease may vary from person to person. The disease is slowly progressive and may result in mild to moderate disabilities in some cases.

more about Myotonic Dystrophy

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