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What does diagnosis for myotonic dystrophy entail?

Updated: 8/19/2019
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GaleEncyofNeuroDis

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13y ago

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Myotonic dystrophy is diagnosed clinically in individuals that have a specific type of muscle weakness. This is confirmed with molecular genetics testing, where the DMPK is analyzed

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Q: What does diagnosis for myotonic dystrophy entail?
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Related questions

Does Myotonic dystrophy have attributed behavior problems?

Myotonic dystrophy does not have attributed behavior problems per se. However, Childhood and adolescent forms of the disease can exhibit cognitive difficulties which can present in a number of different ways such as attention deficit type disorders which could be mislabeled as behavior problems. Your best source of information on Myotonic Dystrophy on the web is the Myotonic Dystrophy Foundation.


What are the symptoms of congenital myotonic dystrophy?

Symptoms in the congenital form of myotonic dystrophy are evident at birth. Affected infants show muscle weakness, respiratory defects, and eventually, mental retardation


What is the treatment for myotonic dystrophy?

Myotonic dystrophy cannot be cured, and no treatment can delay its progression. As of the early 2000s there is no standardized treatment for these disorders because the precise reasons for muscle weakness are not yet fully understood.


What is the symptoms of myotonic dystrophy?

People who have myotonic dystrophy have progressive muscle wasting and weakness beginning in their 20's or 30's. The muscle wasting and weakness develop in their lower legs, hands, neck and face.


How may myotonic dystrophy be said to be a rare disorder?

Myotonic dystrophy is relatively rare, occurring approximately once in 8,000 people. There is also a more rare, severe congenital form that occurs with an incidence of about 1 in 100,000.


What are the effects of myotonic dystrophy?

limitations resulting from myotonic dystrophy can be significant, involving muscle weakness and difficulty lifting items and performing certain routine daily tasks. There are many cases in which affected persons experience mental delays


Can you be a carrier of myotonic dystrophy if you test negative by EMG?

Yes, myotonic dystrophy affects people in multiple ways and can often affect other systems of the body before the skeletal muscles therefore an EMG is no longer a reliable diagnostic tool.


What systems are affected with Myotonic dystrophy?

affects heart muscle, causing arrhythmias and heart block, and the muscles of the digestive system, leading to motility disorders and constipation. Other body systems are affected as well: Myotonic dystrophy may cause cataracts


What is the frequency of myotonic dystrophy in your population?

stated to be 1 in 8000 in the USA, a few places have a higher incidence rate


What do symptoms of Myotonic dystrophy include?

facial weakness and a slack jaw, drooping eyelids (ptosis ), and muscle wasting in the forearms and calves. A person with this dystrophy has difficulty relaxing his grasp, especially if the object is cold


What has the author J E Caughey written?

J. E. Caughey has written: 'Dystrophia myotonica and related disorders' -- subject(s): Myotonic Dystrophy


What is the prognosis for individuals that have the congenital form of myotonic dystrophy?

The congenital form is the most severe, although patients live, on average, until they are 45 years old.