Myotonic Dystrophy - Clinical Features

Myotonic Dystrophy - Clinical Features

• The disease is characterized by progressive deterioration (muscle wasting and weakness) of the muscles of the face, jaw, neck, and limbs.
• Patients with this defect have difficulty in relaxing their muscles following any vigorous effort, such as relaxing the grip after a firm handshake.
• In addition to the muscles, the central nervous system and other organs and tissues may be affected.
• Central nervous system disorders can lead to varying levels of mental retardation.

• Patients with severe form of myotonic muscular dystrophy have characteristic facial features such as long face, facial weakness, drooping eyelids, open, triangular shaped mouth (tent mouth), wasting of the muscles of the neck and jaw.
• Affected men have frontal baldness (loss of hair over the frontal region of the head).
• In addition, a characteristic high-stepping gait, abnormalities of the heart (cardiac arrhythmia or abnormal heart rhythm), endocrine abnormalities and cataracts may be seen.

Myotonic Dystrophy - References

1. Muscular Dystrophy - (http://www.nlm.nih.gov/medlineplus/musculardystrophy.html)
2. Muscular Dystrophy Information Page - (http://www.ninds.nih.gov/disorders/md/md.htm)
3. Basic Human Genetics - Elaine Johansen Mange & Arthur P. Mange
4. Medical Genetics - Lynn B. Jorde, John C. Carey, Raymond L. White

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