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Duchenne Muscular Dystrophy

The main symptom of Duchenne muscular dystrophy is muscle weakness associated with muscle wasting. DMD is inherited. Females will typically be carriers for the disease while males will be affected.

PubMed Health Glossary
(Source: Wikipedia)

About Duchenne Muscular Dystrophy

Duchenne MD is the most common childhood form of MD, as well as the most common of the muscular dystrophies overall, accounting for approximately 50 percent of all cases. Because inheritance is X-linked recessive (caused by a mutation on the X, or sex, chromosome), Duchenne MD primarily affects boys, although girls and women who carry the defective gene may show some symptoms. About one-third of the cases reflect new mutations and the rest run in families. Sisters of boys with Duchenne MD have a 50 percent chance of carrying the defective gene.

Duchenne MD usually becomes apparent during the toddler years, sometimes soon after an affected child begins to walk. Progressive weakness and muscle wasting (a decrease in muscle strength and size) caused by degenerating muscle fibers begins in the upper legs and pelvis before spreading into the upper arms. Other symptoms....Read more about Duchenne Muscular Dystrophy NIH - National Institute of Neurological Disorders and Stroke

What works? Research summarized

Evidence reviews

Scoliosis surgery for people with Duchenne muscular dystrophy

Scoliosis, curvature of the spine, is common in people with Duchenne muscular dystrophy. It is usually progressive and surgery is often performed aiming to halt its progression, improve cosmetic appearance, facilitate care, preserve upper limb and respiratory function, and hopefully increase life expectancy. However, there were no randomized controlled clinical trials available to evaluate the effectiveness of scoliosis surgery. Randomized controlled clinical trials are needed in this group of patients to evaluate the benefits and risks of different surgical treatments. This is an updated review and an updated search was undertaken in which no new studies were found.

Calcium channel blocking drugs for Duchenne muscular dystrophy

Duchenne muscular dystrophy is a progressive wasting condition of muscles which starts in early childhood, leads to dependence on a wheelchair by the age of thirteen and respiratory failure by late teens. The condition is due to absence of dystrophin, a large muscle protein that has several functions within muscle cells. We know that calcium molecules build up in the muscle cells of people with Duchenne muscular dystrophy and this is associated with cell death. The rationale behind this review was to ascertain whether randomised controlled trials using drugs that block calcium entry into muscle would result in a reduction in progression of the condition. Although these trials were conducted over ten years ago a systematic review was not done at that time, and so a potential effect of calcium blocking drugs (antagonists) on the course of DMD may have been missed. If it were to exist, calcium antagonists might be an effective treatment in their own right or, more likely, could be used in combination with newer treatments such as corticosteroids or potential treatments such as gene related therapies.

Glucocorticoid corticosteroid therapy in Duchenne muscular dystrophy (DMD) improves muscle strength and function for six months to two years.

Duchenne muscular dystrophy is an incurable disease of childhood. Muscle wasting and loss of walking lead to wheelchair dependence and eventually death. The precise way in which glucocorticoids increase strength is unknown. Randomised controlled trials have shown that glucocorticoid corticosteroids improved muscle strength and function for six months to two years. Short‐term side effects were significant but not severe and could be managed. Data from non‐randomized studies suggests functional benefit over a five year period in many treated patients, but the overall long‐term benefit remains unclear, and has to be weighed against the long‐term side effects of these drugs. Randomised controlled trials to clarify this uncertainty are desirable, but would require careful ethical consideration.

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Summaries for consumers

Scoliosis surgery for people with Duchenne muscular dystrophy

Scoliosis, curvature of the spine, is common in people with Duchenne muscular dystrophy. It is usually progressive and surgery is often performed aiming to halt its progression, improve cosmetic appearance, facilitate care, preserve upper limb and respiratory function, and hopefully increase life expectancy. However, there were no randomized controlled clinical trials available to evaluate the effectiveness of scoliosis surgery. Randomized controlled clinical trials are needed in this group of patients to evaluate the benefits and risks of different surgical treatments. This is an updated review and an updated search was undertaken in which no new studies were found.

Calcium channel blocking drugs for Duchenne muscular dystrophy

Duchenne muscular dystrophy is a progressive wasting condition of muscles which starts in early childhood, leads to dependence on a wheelchair by the age of thirteen and respiratory failure by late teens. The condition is due to absence of dystrophin, a large muscle protein that has several functions within muscle cells. We know that calcium molecules build up in the muscle cells of people with Duchenne muscular dystrophy and this is associated with cell death. The rationale behind this review was to ascertain whether randomised controlled trials using drugs that block calcium entry into muscle would result in a reduction in progression of the condition. Although these trials were conducted over ten years ago a systematic review was not done at that time, and so a potential effect of calcium blocking drugs (antagonists) on the course of DMD may have been missed. If it were to exist, calcium antagonists might be an effective treatment in their own right or, more likely, could be used in combination with newer treatments such as corticosteroids or potential treatments such as gene related therapies.

Glucocorticoid corticosteroid therapy in Duchenne muscular dystrophy (DMD) improves muscle strength and function for six months to two years.

Duchenne muscular dystrophy is an incurable disease of childhood. Muscle wasting and loss of walking lead to wheelchair dependence and eventually death. The precise way in which glucocorticoids increase strength is unknown. Randomised controlled trials have shown that glucocorticoid corticosteroids improved muscle strength and function for six months to two years. Short‐term side effects were significant but not severe and could be managed. Data from non‐randomized studies suggests functional benefit over a five year period in many treated patients, but the overall long‐term benefit remains unclear, and has to be weighed against the long‐term side effects of these drugs. Randomised controlled trials to clarify this uncertainty are desirable, but would require careful ethical consideration.

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Terms to know

Dystrophin
A protein that helps maintain the shape and structure of muscle fibers.
Genetic
Inherited; having to do with information that is passed from parents to offspring through genes in sperm and egg cells.
Muscle Atrophy (Muscle Wasting)
A weakening, shrinking, and loss of muscle caused by disease or lack of use.
Muscles
Muscles function to produce force and motion. They are primarily responsible for maintaining and changing posture, locomotion, as well as movement of internal organs, such as the contraction of the heart and the movement of food through the digestive system.
Scoliosis
A sideways curvature of the spine.
X Chromosome
A sex chromosome is a type of chromosome that participates in sex determination. Humans and most other mammals have two sex chromosomes, the X and the Y. Females have two X chromosomes in their cells, while males have both X and a Y chromosomes in their cells.

More about Duchenne Muscular Dystrophy

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Also called: Duchenne MD, Pseudohypertrophic muscular dystrophy, DMD

Other terms to know: See all 6
Dystrophin, Genetic, Muscle Atrophy (Muscle Wasting)

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