Myotonic Dystrophy - Diagnosis

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

Physical Examination: A physician experienced in the treatment of neuromuscular disorders can suspect myotonic dystrophy based on the physical examination and interaction with the patient. In most of the instances, patients report of recurrent pain in the abdomen, constipation and obstetric complications. Affected men have a characteristic facial appearance as revealed by long face and frontal baldness. The pattern of muscle involvement and muscle wasting (muscles in the face, neck, lower arms and legs) can also be used to establish the diagnosis. An eye examination can reveal the presence of a specific type of cataract, most commonly seen in MMD patients. If a physician suspects his patient to have MMD, he may check for signs of myotonia by slightly tapping the affected area with the help of a rubber hammer. Rapid contraction of the muscle followed by delayed relaxation is seen in patients with myotonic dystrophy.

Electromyography: The electrical activity of the muscles and nerves are tested, providing valuable information regarding the diagnosis. Small needles are inserted into the affected muscles and the electrical activity is tested.

Muscle Biopsy: A small piece of the affected muscle is withdrawn using a fine needle and is then analyzed under the microscope by a pathologist. A specific pattern of muscle architecture may help in establishment of the diagnosis.

Genetic Tests: Although the above-mentioned tests can provide an idea about the presence of muscular dystrophy, a definite conclusion about the clinical condition may not be possible without genetic analysis. In this test, blood sample is drawn from the patient, the DNA extracted and tested for the presence of the disease.

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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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

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

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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