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.

Overview

What is myotonic muscular dystrophy (MMD)?

Illustration of muscles affected by MMD (front) Illustration of muscles affected by MMD (back)
Description: 

MDA leads the search for treatments and therapies for myotonic muscular dystrophy (MMD). The Association also provides comprehensive supports and expert clinical care for those living with MMD.

In this section, you’ll find up-to-date information about myotonic muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

Going to the Emergency Room: Tips for People with Neuromuscular Diseases

When a medical emergency strikes — and the patient is a person with a neuromuscular disease— it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

Five Strategies for Treating Neuromuscular Disease

Antisense oligonucleotides block flawed genetic instructions

Antisense oligonucleotides — also called antisense, oligos, or simply AONs— are pieces of genetic code that keep other genetic code from being processed. Designed to pair up with a particular sequence of DNA or RNA, AONs can change, block or destroy targeted genetic instructions in a variety of ways.

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