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Myotonic Dystrophy

Written by Dr. Varshini Jayaraman,  Ph.D. | Medically Reviewed by Dr. Ramya Ananthakrishnan, MD on Apr 03, 2008
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About Myotonic Dystrophy

Myotonic dystrophy is the most common form of muscular disease, which affects adults. The disease is also called as Steinert's disease, named after the doctor who first described it in the year 1909. The term myotonia is used to refer to a defect in the muscle fibers, that results in abnormal, prolonged muscular spasm. It is seen in approximately 1 in 7500 to 8000 live births.


The term muscular dystrophy is used to represent a group of muscle diseases characterized by muscle weakness and wasting of muscles. Several forms of muscular dystrophy are present among which the three most important ones are Duchenne Muscular dystrophy (DMD), facioscapulohumeral dystrophy, and myotonic Dystrophy. Myotonic dystrophy should not be confused with other forms of the disease. The characteristic feature of the disease, myotonia is not seen in any other form of muscular dystrophy. The disease be seen in newborn infants, at the time of birth (congenital MMD) or can manifest later during adolescence or adulthood (adult onset MMD).

The genetic disease is one of the best examples for a phenomenon called 'anticipation' in which the age of onset of the disease is early and the disease severity is greater in the successive generations. For example, a grandmother with the disease is only slightly affected, then mother is moderately affected and the grandchild severely affected. The disease might even be undetectable in the older generation while it may be severe enough to cause death in the recent generation.

The genetic defect responsible for myotonic muscular dystrophy has been traced to chromosome 19. The disease is transmitted in an autosomal dominant fashion; the disease is seen in every successive generation. Usually, equal number of males and females are affected. The disease may be transmitted from the father to son.

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

Latest Publications and Research on Myotonic Dystrophy

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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


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?


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


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.


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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