What Is Myotonic Dystrophy?

November 12, 2012

What Is Myotonic Dystrophy?

Myotonic dystrophy is also called myotonia dystrophica and myotonia atrophica. No matter what you call it, MD is a genetic wasting disease of the muscles. There are two types of myotonic dystrophy in humans, known as Type 1 (DM1) and Type 2 (DM2.) This is an extremely rare disease that only afflicts 1 in every 8,000 people. Because it is a genetic disease, it runs in families. Adults with myotonic dystrophy should consider not have children because of the risk of the child being afflicted. There is no cure.

Both types of MD are muscle wasting diseases, where the muscles become so weak that they stop working. Many patients develop vision problems because of the paralysis of the muscles in their eyes. The big risk is that the disease progresses to stop the most important muscle in the body – the heart. Some patients may also experience difficulties breathing.

Symptoms of Myotonic Dystrophy

Symptoms of MD usually do not appear until the patient is a young adult. The older a patient is, the better the chances of slowing the disease down. Babies that begin to show symptoms usually die in infancy. In their brief lives, they suffer from mental retardation, heart problems, breathing problems, clubfoot and lack of coordination.

The main symptoms of myotonic dystrophy are:

  • Inability to relax a muscle or group of muscles
  • Lack of coordination, such as problems speaking or stumbling while walking
  • Cataracts in one or both eyes
  • Droopy eyelids
  • Irregular heartbeat
  • Difficulties swallowing
  • Difficulties breathing
  • Difficulties digesting food which may lead to chronic nausea and constipation
  • Pain the affected muscles
  • Growth of non-cancerous tumors
  • Excessive daytime sleepiness, no matter if the patient is sleeping well
  • Sleep apnea, where the airways are temporarily blocked during deep sleep
  • Problems learning, remembering or concentrating.

Symptoms get worse over time. Muscles over most of the body become weak. The patient may become very depressed because of these symptoms. Men often become infertile and bald due to changes in their hormone levels. Women are unable to give birth naturally because their bodies will not be able to have forceful enough contractions. Both sexes will have difficulties handling anesthesia because of the risk that they may stop breathing. Their bones often become weaker and may break easily.

Treatment of Myotonic Dystrophy

Treatment differs for each patient because MD affects each patient differently. Some patients will deteriorate faster than others. Just why this happens is unknown. Braces, walkers and wheelchairs can help keep patients moving. Medications may be given to help decrease the chances of a heart attack, bone breaks or other complications of the disease. Patients may need to wear a neck brace to help keep their heads up and take the strain off of their skeletons. Cataracts and tumors can be removed with surgery.

Since the patient is undergoing an incredible amount of stress, therapy is usually suggested in combination with physical therapies. Speech therapy can help a person with talking difficulties. Support groups may be available in your area or online. Contact the Myotonic Dystrophy Foundation for information.

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