How does muscular dystrophy work

Muscle weakness is the principal symptom of DMD. It can begin as early as age 2 or 3, first affecting the proximal muscles those close to the core of the body and later affecting the distal limb muscles those close to the extremities. Usually, the lower external muscles are affected before the upper external muscles. The affected child might have difficulty jumping, running, and walking. Other symptoms include enlargement of the calves, a waddling gait, and lumbar lordosis an inward curve of the spine.

Later on, the heart and respiratory muscles are affected as well. Progressive weakness and scoliosis result in impaired pulmonary function, which can eventually cause acute respiratory failure.

DMD was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the s, but until the s, little was known about the cause of any kind of muscular dystrophy. In , the protein associated with this gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged. DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as a carrier. Which parts of the body show weakness first?

Face, neck, arms, hands, hips, and lower legs. Heart, lungs, stomach, intestines, brain, eyes, and hormone-producing organs. Learn how myotonic dystrophy is inherited external icon. Who is more likely to be affected: males or females? Males and females equally. Childhood or adulthood, depending on the type of LGMD. Heart, spine, hips, calves, and trunk. Learn how limb-girdle muscular dystrophy is inherited external icon. Face, shoulders, and upper arms.

Learn how facioscapulohumeral dystrophy is inherited external icon. Neck, upper arms, upper legs, and lungs. Learn how congenital muscular dystrophy is inherited external icon. Feet, hands, lower legs and lower arms. Learn how distal muscular dystrophy is inherited external icon. Shoulders, upper legs, and hips. Learn how oculopharyngeal muscular dystrophy is inherited external icon. Learn how Emery-Dreifuss muscular dystrophy is inherited external icon. Skip directly to site content Skip directly to page options Skip directly to A-Z link.

Muscular Dystrophy. Section Navigation. Facebook Twitter LinkedIn Syndicate. What is Muscular Dystrophy? Minus Related Pages. About 14 in , males 5 — 24 years of age Who is more likely to be affected: males or females?

There's no cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the course of the disease. The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.

This is the most common form. Although girls can be carriers and mildly affected, it's much more common in boys. Signs and symptoms are similar to those of Duchenne muscular dystrophy, but tend to be milder and progress more slowly. Symptoms generally begin in the teens but might not occur until the mids or later.

Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms begin. Examples include:. Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in you or your child. Certain genes are involved in making proteins that protect muscle fibers. These trials offer an opportunity to receive an investigational treatment at no cost, while also benefiting the medical community and others who have the disease.

To participate in a clinical trial, the individual must meet strict eligibility criteria, such as age, gender and treatment history. A key barrier can be the time of diagnosis. One way you can help is to become involved with a patient advocacy organization.

The diseases may be rare, but you're not alone. Gene Editing and DMD Researchers are also exploring approaches for DMD using gene editing, which is a type of gene therapy, to increase dystrophin production. Get Involved One way you can help is to become involved with a patient advocacy organization. Related Pages Gaucher Disease. This site uses cookies to offer you a better user experience and to analyze site traffic.

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