Running head: Myotonic Dystrophy 1

Myotonic Dystrophy Research

Aakash B. Reddy

Ms. Sappington

Honors Biology 2019

Johns Creek High School

1/20/19

Authors Note

This is just the research for the disorder and not the finished product.
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Myotonic Dystrophy Briefing

Myotonic dystrophy is one of many inherited disorders called muscular dystrophies. It is

the most common form of muscular dystrophy that usually begins in adulthood. Myotonic

dystrophy is characterized by progressive muscle weakness. People with this disorder often have

prolonged muscle contractions, also known as myotonia, and are not able to relax certain

muscles after use. For example, a person may have difficulty releasing their grip on a doorknob

or handle. Also, affected people may have stuttered or temporary locking of their jaw. In which

you can’t eat, drink or breathe through your mouth.

Signs and Symptoms of Myotonic Dystrophy

Including the other symptoms of Myotonic Dystrophy, you can experience a burry image,

random abnormalities of the electrical signals that control the heartbeat and in males, hormonal

changes may lead to early balding and the inability to reproduce in some cases. You also will

experience weak muscles throughout the body and the inability in some cases to walk and to lift

objects like a cup of water or a backpack.

The types of Myotonic Dystrophy

There are two major types of myotonic dystrophy. Simply type one and type two. Their signs and

symptoms are the same in general, however type 1 myotonic dystrophy tends to be harsher and

symptoms tend to be more severe than type 2. The muscle weakness of type 1 particularly affects

your lower body, while type 2 affects the upper body including the neck, head, shoulders, hips

and elbows. Type one usually affects your feet and legs. The two types of myotonic dystrophy

are caused by mutations in different genes. A variation of type 1 myotonic dystrophy is called

congenital dystrophy which is apparent only at birth. It features an inward and upward turning
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foot, breathing issues, delayed development physically and mentally and has other devastating

health problems in which can be deadly.

Interesting Facts

1. Myotonic Dystrophy affects nearly 1 in every 8,000 people worldwide

2. The type of Myotonic Dystrophy type 1 and type two all depend on the geographic and

ethnic populations.

3. It is abbreviated as DM not MD or MD1 and MD2 (type 1 and 2)

4. It affects nearly 100,000 Americans alone

History of Myotonic Dystrophy

Having been first found by Hans Steinert, who in 1909 first found out about the disease, first

named it Steinert disease in which many refer today, however is most commonly known as

myotonic dystrophy.
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