Muscular dystrophy varies in the age of onset and is characterized by myotonia (prolonged muscle spasm) in the fingers and facial muscles; a floppy-footed, high-stepping gait; cataracts; cardiac abnormalities; and endocrine disturbances.
Myotonic dystrophy is transmitted via an autosomal dominant inheritance.
Symptoms and signs of Myotonic muscular dystrophy
MMD symptoms can also begin in children past infancy but not yet adolescents, although this is unusual. Generally, the earlier MMD begins, the more severe the disease is.
- Individuals with myotonic MD have long faces and drooping eyelids;
- men have frontal baldness.
- difficulty raising the head when lying
- difficulty climbing stairs or getting up from a seated position
- Difficulty swallowing
- Reduced fertility
- Sleep apnea
What causes Myotonic Dystrophy?
As in all hereditary disorders, the disease process originates in genetic material that is defective. However, the specific biochemical basis for this process in myotonic dystrophy is unknown. A growing body of evidence strongly suggests that myotonic dystrophy is a disease of cell membranes affecting a variety of cell types.
Treatment of Myotonic muscular dystrophy
At this time, there's no specific treatment that "gets at the root" of MMD. Treatment is aimed at managing symptoms and minimizing disability.
The neurologist may recommend that myotonia, the inability to relax muscles, be treated with a drug such as mexiletine.
People with MMD will probably have to face the need for surgery at some time.
Children with developmental delays can be assisted by speech therapy and a modified school environment.
Like many other disorders, understanding and learning about muscular dystrophy are the most important tools with which to manage and prevent complications.
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