How is myotonic dystrophy diagnosed

how is myotonic dystrophy diagnosed

Finding Reliable Health Information Online A listing of information and links for finding comprehensive genetics health information online. Men who experience hypogonadism are treated with hormone replacement therapy. Medical Genetics and Neurology. Making an Informed Choice about Genetic Testing. A family history of muscle weakness and myotonia is a strong indicator of a diagnosis for DM. In most people, there is little or no response.

In the normal population, the number of CCUG repetitions is inferior to 75 but in the disease, the number of repetitions can be up to 11 000 with an average of 5000 repetitions.

Learning About Myotonic Dystrophy

An electromyography EMG is a test that records electrical activity in skeletal voluntary muscles at rest and during muscle contraction. Lancet Neurol.

how is myotonic dystrophy diagnosed

Conduction defects, irregular heartbeats arrhythmias , and disease of the heart muscle cardiomyopathy are potential complications. Because of weakness of the muscle that elevates the upper eyelids, the eyelids may droop and hang partially in front of the eyes ptosis. Children with skeletal malformations may require orthopedic surgery.

Myotonic Dystrophy (DM)

Some individuals have small, benign growths called pilomatrixomas and epitheliomas, particularly on the scalp. Many also report that their parents had muscle problems.

how is myotonic dystrophy diagnosed

Related Disorders Symptoms of the following disorders can be similar to those of myotonic dystrophy. English Talking Glossary: Usually, disability does not become severe until fifteen to twenty years after the symptoms appear. Myotonic dystrophy: Of course, someone who has manifestations of the disease does not have to take a genetic test in order to be diagnosed.

Rare Disease Database

All rights reserved. Permanent weakness and wasting of muscles may develop later on. Men with the mild form have an increased likelihood of going bald.