Living with Myotonic muscular dystrophy (MMD)

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by Zahra Wyne

Myotonic muscular dystrophy (MMD) is a form of muscular dystrophy that affects muscles and many other organs in the body. Unlike some forms of muscular dystrophy, MMD often doesn’t become a problem until adulthood and usually allows people to walk and be fairly independent throughout their lives. The infant form of MMD is more severe. It can occur in babies born to parents who have the adult form, even if the parents have very mild cases.

The word myotonic is the adjective for the word myotonia, an inability to relax muscles at will. Most commonly, myotonia makes it difficult to relax the fingers after a firm hand grip. People with adult-onset myotonic dystrophy may simply adjust to this problem, and not realize that slow muscle relaxation is abnormal. The term muscular dystrophy means progressive muscle degeneration, with weakness and shrinkage of the muscle tissue. This muscle wasting generally presents much more of a problem to people with MMD than does the myotonia.

Muscle pain also can occur in MMD. Myotonic muscular dystrophy often is known simply as myotonic dystrophy and occasionally is called Steinert disease, after the doctor who originally described the disorder in 1909. It’s also called by its Greek name dystrophia myotonica, and therefore sometimes is abbreviated “DM” rather than “MMD.” Myotonia isn’t a feature of any other form of muscular dystrophy (although it occurs in other kinds of muscle diseases, where it can be severe). When a person suspected of having muscular dystrophy has myotonia, the diagnosis is likely to be MMD.

MMD varies greatly in severity, even within the same family. Not everyone has all the symptoms and not everyone has them to the same degree. For some people, symptoms are fairly mild even in middle age, while for others, the weakness and wasting are severely limiting to daily activities. For still others, the effects are somewhere in between. There is, however, a distinct difference between the type that affects newborn infants — congenital MMD — and the type that begins in adolescence or adulthood — adult-onset MMD.

There is no cure true but it can be managed by understanding how the disease affects you in  different ways. I’ve been able to stay active while avoiding more physically demanding activities. I take pains to keep my stress level to a minimum and make sure I get plenty of sleep, because I’ve learned that stress and fatigue will exacerbate my symptoms rapidly.  It is encouraging knowing that there are treatments and interventions for most of the symptoms and difficulties that arise with the disease.

Two years later down the line I have learned to cope and manage my disease quite effectively. Exercising regularly helps. Nothing strenuous, light aerobic exercises or taking a short walk is usually enough. By managing this there is little I can’t do, though my speed has been greatly affected. If someone walks a certain distance in 10 minutes it might take me 20 to do the same. I can do it but it takes time and I’m okay with it.