Myotonic Muscular Dystrophy (MMD)

Pamela Jablonski

Location

Bonita Springs, FL

Pamela has been drawing and painting most of her life. She has both a bachelor’s degree and a master’s degree in education. Her works have been shown in local juried shows at the Lee Memorial Hospital.

Full name: 
Pamela Jablonski
Artist: 
Pamela Jablonski
Disease: 
Myotonic Muscular Dystrophy (MMD)
Medium: 
Watercolor

Living With

Dear Friends:

Myotonic muscular dystrophy (MMD) has been a part of my family’s life for many years. The symptoms for my siblings and me began in our 30s, and we believe the disease goes back at least two generations before us. Some of my nieces and nephews also are affected.

Denise Balon

Read more ...

Clinical Trials

About clinical trials

A clinical trial is a test in humans of an experimental medication or therapy. Clinical trials are experiments, not treatments, and participation requires careful consideration.

Although it's possible to benefit from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Keep your MDA clinic doctor informed about any clinical trial participation. (Note that MDA has no ability to influence who is chosen to participate in a clinical trial.)

Research

The major focus in MMD research has been on the molecular underpinnings of the disease. To date, most of the work has been done using animal and cellular models of type 1 MMD. However, many experts believe the findings from the MMD1 experiments will have implications for MMD2 as well.

Medical Management

As yet, there’s no specific treatment that “gets at the root” of type 1 or type 2 myotonic muscular dystrophy (MMD1 or MMD2). Treatment is aimed at managing symptoms and minimizing disability.

This section first addresses medical management of the many symptoms of adult-onset MMD1/MMD2 and juvenile-onset MMD1. Not everyone will require all these aspects of medical management, and some symptoms may first appear or worsen as a person grows older.

Causes/Inheritance

What causes MMD?

Type 1 myotonic dystrophy (MMD1) and type 2 myotonic dystrophy (MMD2) dystrophy are both caused by abnormally expanded stretches of DNA. The expansions occur in two different genes but appear to have similar effects on various cells, particularly the cells of the voluntary and involuntary muscles, including the heart and some nerve cells.

Diagnosis

Doctors with experience in neuromuscular disorders often find it easy to diagnose type 1 myotonic muscular dystrophy (MMD1). Sometimes, just by looking at a person, asking a few questions and examining him or her, they're well on the way to suspecting MMD1. For instance, teenagers and adults with MMD1 (the most common type) usually have a characteristic long face with hollow temples, and males often have early balding. (See Signs and Symptoms.)

Signs and Symptoms

Myotonic dystrophy is more than just a muscle disease. Both MMD1 and MMD2 affect several aspects of physical and mental functioning, to varying degrees and with variable scope.

The following sections discuss different problems that can occur, although many people with the disease have only some of them. Most of these symptoms can be lessened with treatment. See Medical Management for information on current therapies.

Types of Myotonic MD

The two major types of myotonic muscular dystrophy (MMD) — MMD1 and MMD2 — are both caused by genetic defects.

MMD1, the most common type, results from an abnormal DNA expansion in the DMPK gene on chromosome 19.

MMD2 arises from an abnormal expansion of DNA in the ZNF9 gene on chromosome 3.

Within MMD1 there are additional subtypes, depending on a person’s age at onset of symptoms. The age of onset is roughly correlated with the size of the DNA expansion, with larger expansions associated with earlier disease onset.

Pages