What You Need to Know About Myotonic Dystrophy

by pharmacy on January 17, 2018

myotonic dystrophyHuman beings are amazing creatures. On one hand, our bodies are considerably resilient considering the number of toxins we are exposed to on a daily basis. On the other hand, we develop some fairly unique issues and develop unknown diseases often. Myotonic Dystrophy (aka DM for dystrophia myotonica) is the most common form of muscular dystrophy yet we seldom hear that illness in the media. Today we explore what the disease is, how it’s treated, and how you can support your DM patients.

The Nitty Gritty Details

Myotonic Dystrophy affects the muscles and organs within the body, causing degeneration of these parts that result in weakness and shrinkage. The cause lies within our chromosomes. If the DMPK gene in chromosome 19 is abnormally expanded, the patient has DM1. If gene ZNF9 in chromosome 3 has the abnormally expanded section, the patient has DM2. What is the difference? DM1 can appear in children as well as adults and most often affects all of the muscles from head to toe. DM2 is most attributed to adults and affects the legs and feet more than anywhere else. These patients may suddenly struggle to go up a flight of stairs or rise from a squatting position.

The Symptoms to Watch For

Research has suggested that there is a possible effect on the brain that makes it difficult to maintain the rhythm between sleeping and waking. Many patients, particularly with DM1, struggle with daytime sleepiness that affects their abilities to attend school, work, and engage in activities. Respiratory muscle weakness is also very common in DM1 making it difficult to breathe and swallow. Sleep apnea is also a major concern when combined with other muscle weakness due to the inability to get the oxygen much needed for our bodies to function. Some DM patients can breathe just fine during the day but the breathing during sleep becomes a major issue and concern.

Since swallowing is both a voluntary and involuntary action, many DM patients suffer “swallowing the wrong way” and then choking on food and water. Eye care becomes a top priority for both types of patients, especially as they age. Cataracts are extremely common in both types but typically occur around the same age as those without the condition. Weakness of the muscles is the most noticeable of signs of DM. DM1 patients often begin with facial muscle weakness and it shows in what appears to be a “drooping” face. Other muscles will follow in short order. DM2 patients begin in their lower bodies and often become wheelchair bound so they can continue to be mobile. Heart issues are common with both types. Many assume it’s because the heart is a muscle, but it’s really the conduction system that suffers the most. Dizziness and near fainting spells occur often.

Treatments Available

Since myotonic dystrophy has no cure, all treatments are to cope with the symptoms of the disease. Physical therapy is used to ease pain and keep muscles useful for as long as possible. Pain medications are often prescribed to manage the pain levels many sufferers deal with. Other meds may be prescribed to handle issues with stomach, intestines, heart, and liver.

What Can You Do?

If any patients are related to a person who has any form of muscular dystrophy, pharmacists and physicians should encourage them to have genetic testing so they can be aware of the possibility. Many cases are inherited but some are not. Consistent annual physicals and a healthy diet will certainly help others stay on top of their health and spot problems early on.

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