Duchenne Muscular Dystrophy

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy is a muscle disease caused by the body not being able to produce a specific protein (called dystrophin) that provides support and protection for many muscles in the body. Children with Duchenne muscular dystrophy may may show signs of muscle weakness starting in early childhood. The muscular symptoms usually worsen as the child gets older, affecting the child’s ability to stand and walk. People with Duchenne muscular dystrophy may also develop heart and lung problems.

How common is Duchenne muscular dystrophy?

Duchenne muscular dystrophy mostly affects males, but in rare cases, females can be affected too. About 1 in 3,500 baby boys are born with Duchenne muscular dystrophy in the United States each year.

What can be done for Duchenne muscular dystrophy?

Identifying this condition early (soon after birth) may lead to reduced symptoms and an improved quality of life. Heart conditions related to Duchenne muscular dystrophy can be managed, in part, by medications called ACE inhibitors and beta-blockers. Some muscular symptoms can also be lessened with daily medication treatment or supportive braces. Clinical trials are also recruiting patients with DMD in the pursuit of a cure.

How is Duchenne muscular dystrophy inherited?

Duchenne muscular dystrophy is caused by changes in the DMD gene. The DMD gene is located on the X chromosome, so Duchenne muscular dystrophy is called an X-linked inherited condition. Males have one copy of the X chromosome while females have two. For males, a change in the DMD gene on their only X chromosome can cause Duchenne muscular dystrophy. For females, an alteration in the DMD gene on one X chromosome but a functioning copy on the other X chromosome will not cause the classic form of Duchenne muscular dystrophy but may lead to some symptoms, such as muscle weakness and heart problems. This also means that the female is a carrier, and can pass on the X-chromosome with the altered DMD gene to her children.

References

https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy#statistics
https://clinicaltrials.gov/ct2/results?cond=%22Duchenne+and+Becker+muscular+dystrophy%22+OR+%22muscular+dystrophy%2C+Duchenne+and+Becker+types%22+OR+%22Becker+muscular+dystrophy%22+OR+%22Duchenne+muscular+dystrophy%22
https://www.ncbi.nlm.nih.gov/books/NBK1119/

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