Myotonic Dystrophy

Maya Barber
Bea Palmer

What is it?
Myotonic dystrophy is a genetic disorder that gradually
wears away muscles and causes weakness
Typically begins during adulthood
Characterized by progressive muscle wasting and
weakness
Muscle weakness and wasting slowly progresses to the
point of disability
It is slower and is less serious in people who are older
and when muscle weakness is first noticed
This genetic disorder affects many parts of the body

Symptoms

Symptoms start to develop when a person is in his or her twenties or

thirties
Most of them can be treated.
Muscle wasting and weakness develops in their lower legs, hands, neck
and face.
Stiffness and tightness of their muscles. They are slow to relax
certain muscles after using them.
Clouding of the lens in their eyes start
Irregularities in the electrical control of their heartbeat
Men have changes in their hormones that can cause balding and the
inability to father their child (infertility)
Babies who are born and have symptoms of myotonic dystrophy, have
congetial myotonic dystrophy. Their symptoms include weakness of all
their muscles, breathing problems and medical conditions that are so
severe can cause death.

Type 1 & Type 2

Two types are caused by
alterations in two different
genes. Theyre known as Type
1 and Type 2 (MMD1 & MMD2).
Type 2 symptoms are usually
milder than type 1. Type 1,
also called congenital
myotonic dystrophy can be
seen at birth.

How common is it?

It is the most common form of muscular dystrophy It affects 1 in

8,000 people worldwide.
Type 1 is the most common form in most countries.
However, recent studies have shown that type 2 may be as common
as type 1 among people in Germany and Finland.
This genetic disorder is dominant

What treatments are available?

Currently there is no cure for Myotonic Dystrophy
There is lot that you can do to improve the quality
of your life. One way is constantly watching and
taking care of your symptoms.
Wheelchairs, leg braces, and
medicine for eyesight and heart
problems are available to make
things easier.

How is it diagnosed?

It is diagnosed by doing a physical

exam. A physical exam can identify a
pattern of muscle weakness and
wasting and presence of myotonia.
Electromyography involves inserting
small needles into the muscles. It is
studied by the electrical activity of
the muscle and shows characteristic
patterns of muscle electrical
discharge.
Doctors can identify MMD if theres
significant weakness in ones facial
muscles.

Facts

People with congenital MMD1 may be able to grow out of a lot of

the muscle-related parts of the disorder, however they wont
grow out of the mental aspects.
Dystrophia myotonica is the Latin name used by doctors. Its
often abbreviated as DM. The different types of DM are referred
to as DM1 or DM2.
The muscles that line internal organs such as the intestines,
stomach and uterus can weaken.