Duchenne Muscular Dystrophy

Duchenne muscular dystrophy cause 

Duchenne muscular dystrophy is caused by a gene change, called a mutation. A change in the DMD gene affects a protein made by muscle cells called dystrophin. When the gene is changed or deleted, muscles do not produce enough dystrophin. Without that protein, muscle fibers do not work as they should. This leads to muscle damage, muscle breakdown, and weakness.

The DMD gene is located on the X chromosome. A chromosome is the part of a cell that contains genetic information.

Girls have 2 X chromosomes, 1 from their mother and 1 from their father. Because girls have 2, they can usually make enough dystrophin with the gene from the healthy X chromosome. Girls with this gene change may have some symptoms, such as weakness, heart problems, and muscle cramps. These girls are also carriers of the disease. They can pass it on to their children.

Boys have an X chromosome from their mother and a Y chromosome from their father. If the gene for dystrophin on their X chromosome is affected, they cannot create more dystrophin. Boys with DMD have more severe symptoms that get worse over time and have a shorter life expectancy.

To learn more about DMD and current treatments, visit organizations dedicated to DMD and rare diseases.

Duchenne muscular dystrophy care at St. Jude

St. Jude Children’s Research Hospital is working to deepen the understanding of rare, catastrophic genetic neurological disorders in children. Our aim is to transform the treatment landscape for these disorders. The Center for Experimental Neurotherapeutics (CENT) was established at St. Jude as part of the Pediatric Translational Neuroscience Initiative (PTNI) to focus on these neurological disorders.

Select children with DMD who are accepted at St. Jude take part in clinical research or clinical trials. The aim of these studies is to help scientists learn more about the disorders and to develop potential treatments.  

Duchenne muscular dystrophy clinical research