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What is Duchenne's Dystrophy?

Tricia Christensen
Tricia Christensen
Tricia Christensen
Tricia Christensen

Duchenne's dystrophy is a form of muscular dystrophy that is rare, affecting only about one in 2000-3500 kids. It is most seen in males, but is passed to males by mothers who carry a gene for the condition, and it is an x-linked form of inheritance, occurring on the X chromosome. The illness can be very difficult, since it causes muscle deterioration, especially of the legs, and often means that boys who get it are wheelchair bound by about the age of 10-12. There is no cure for this condition, but there are treatments that may help delay loss of motion or slow progress of the disease.

As mentioned, Duchenne's dystrophy is inherited and most affects males. Women who are carriers may never have any type of health problems. A carrier of Duchenne’s dystrophy has a greater risk of developing cardiomyopathy, or increase in heart size that may lead to failure of heart muscle. This risk should be taken seriously, and those who may have a family history of this condition should periodically see a cardiologist to assess heart function and possibly a genetic counselor to determine risk of passing the illness onto children.

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In children the disease may not be noticed at birth, but children have a harder time learning to walk, and they might seem uncoordinated, clumsy, or find certain walking tasks, like climbing stairs, very difficult. One characteristic that is often observed in Duchenne's dystrophy is enlarged muscles in the calf. Muscle tone and function tends to decrease as kids age, so that ultimately things like walking become much harder. Eventually, there is simply not muscle strength to walk anymore and children require a wheelchair.

Since muscular dystrophy affects muscle function and movement, there are other symptoms of Duchenne's dystrophy that emerge. This can include complications to heart function like cardiomyopathy, and children with this condition frequently need to be followed by a pediatric cardiologist to assess this risk, which may change over time. Some children with Duchenne's also have mental retardation, but it is usually not progressive and it isn’t always present. As this illness does progress, lungs may be affected and breathing could be difficult or food aspiration may occur creating choking problems. Sometimes muscle cramping occurs too, though this disease is not necessarily physically painful.

While there is no cure for Duchenne's dystrophy, there are treatments that might slow the progression of the disease down. These include using medications like corticosteroids, and pursuing a variety of occupational and physical therapies that may help address some muscle wasting by actually building a little muscle. Spinal curvature, which could be present in this illness may be addressed by braces and postural correction, and gentle exercise may help relax the body and maintain muscle function for longer, or provide needed activity after muscle mass has been depleted.

Duchenne's dystrophy remains a challenging illness and is hard on both the child and his family. There are support organizations available for families who are affected by this condition. It is also one of the diseases that is given attention by the March of Dimes Association in the US, and contacting this organization can prove useful in planning out treatment for this illness or potentially in paying for some of the services involved in treatment.

Tricia Christensen
Tricia Christensen

Tricia has a Literature degree from Sonoma State University and has been a frequent WiseGEEK contributor for many years. She is especially passionate about reading and writing, although her other interests include medicine, art, film, history, politics, ethics, and religion. Tricia lives in Northern California and is currently working on her first novel.

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Tricia Christensen
Tricia Christensen

Tricia has a Literature degree from Sonoma State University and has been a frequent WiseGEEK contributor for many years. She is especially passionate about reading and writing, although her other interests include medicine, art, film, history, politics, ethics, and religion. Tricia lives in Northern California and is currently working on her first novel.

Learn more...

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