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Myotonic Dystrophy - Clinical Features

Written by Dr. Varshini Jayaraman,  Ph.D. | Medically Reviewed by Dr. Ramya Ananthakrishnan, MD on Apr 03, 2008
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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.
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  • 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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Comments

manubabu

My elder brother Mr Chittaranjan Sahoo aged 45 from Keonjhar Dist ,state-Odisha ,India is seriously affected in the Hereditary Mytonica Dystrophy diseases and now treatment in SCB Medical college Odisha under the Dr Prop. Ashok Mallick and Dr. LULUP Ku Sahoo in the Dept of NEUROLOGY . But they told us that their is no such successive treatment for the diseases ? Is it true plz help us and suggest the better treatment

vicky1181

New to this site. Been diagnosed with mynotonic dystrophy at the age of 10. I was born with this. I was told it hasnt progressed any since the age of 10 but, why do i find it difficult to do the things i used to do? I used to be able to walk long distances, run, excercise. Now at the age of almost 32, i find it extremely difficult to do those things. I can walk but have to stop for frequent breaks. I cant run anymore, nor excericse like i used to. If it hasnt progressed any, why am i having so much trouble doing the things i used to do?

Iqbal_Hussain

My wife had been diagnosed with MD, we are in Delhi and not been able to locate a proper doctor. I will be grateful if somebody can refer a competent doctor to us. I also will be obliged if somebody can guide me if my kids 12 yrs and 4 yrs need a genetic screening

Emmab

My husband has Myotonic Dystrophy and finds cycling and swimming a lot easier than walking. The cycling he likes better due to his feet and ankles hurting when walking. The swimming was adviced by his doctor as this works most of the body and he is not straining himself.

R-Hughes

New to the site: Was told I have it about 6 weeks ago don't know which type yet. was hoping to find out about pain manament as somedays are better than others.It seem to be worst in cold or hot weather the amount of pain is incressed.I walk everyday because I have a little dog and he make me go which is a good thing and it makes it enjoyable.

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