Introduction

Questions and Answers
Part I
Part II

Characteristics of the 9 Muscular Dystrophies

MDA's Search for Causes

MDA's Search for Treatments and Cures

MDA is Ready to Help

MDA's SEARCH FOR CAUSES

All forms of muscular dystrophy are caused by gene defects. What escaped scientists for decades was the identity of the responsible genes and the proteins they code for, as well as the ways in which those proteins are abnormal in these diseases. Many doctors once questioned whether the causes of muscular dystrophies could ever be found.

In 1986, MDA-funded researchers made medical history. A Boston-based team of scientists discovered the gene that, when defective, is responsible for Duchenne and Becker muscular dystrophies. One year later, the same research team identified the crucial protein — dystrophin — which, if deficient or abnormal, causes both diseases. These breakthroughs were the culmination of many years of painstaking research by MDA grantees.

A new and more hopeful era has emerged with these milestone achievements. MDA-backed scientists are using state-of-the-art research techniques, like those that led to the Duchenne muscular dystrophy gene and dystrophin breakthroughs, in their search for the causes of the muscular dystrophies and other genetic neuromuscular diseases. Gene and protein defects for many of these diseases have now been identified.

In the short term, gene identification leads to better diagnostic tests and a better understanding of the biological basis of a disease. In the long run, these discoveries will likely lead to disease treatments.

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