Duchenne Muscular Dystrophy

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Overview

Duchenne muscular dystrophy (DMD) affects the muscles, leading to muscle wasting that gets worse over time. DMD occurs primarily in males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and loss (atrophy) of both skeletal and heart muscle. Early signs may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable in early childhood. DMD is caused by genetic changes (DNA variants) in the DMD gene. DMD is inherited in an X-linked recessive pattern and may occur in people who do not have a family history of DMD. Diagnosis of DMD is based on the symptoms, clinical exam, and the result of a biopsy to remove a small piece of muscle for examination under a microscope. The result of genetic testing may also help confirm the diagnosis. Becker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by genetic changes in the DMD gene.

Symptoms

Duchenne type muscular dystrophy

Frequent falls.

Difficulty rising from a lying or sitting position.

Trouble running and jumping.

Waddling gait.

Walking on the toes.

Large calf muscles.

Muscle pain and stiffness.

Learning disabilities.

Causes

It is caused by a genetic mutation on one of the mother's X chromosomes, and researchers have identified some of the affected genes. Duchenne muscular dystrophy is caused by a genetic problem in producing dystrophin, a protein that protects muscle fibers from breaking down when exposed to enzymes.

MD is caused by mutations (alterations) in the genes responsible for healthy muscle structure and function. The mutations mean that the cells that should maintain your muscles can no longer fulfil this role, leading to muscle weakness and progressive disability.

Risk factors

A 2017 study found that there are 3 main risk factors associated with poor outcome in patients with Duchenne muscular dystrophy (DMD). These are low body mass index (BMI), poor lung function, and high cardiac biomarkers like N‐terminal pro‐brain natriuretic peptide.

Duchenne muscular dystrophy mostly affects boys and occurs in one in 3,500 to 5,000 newborns. There is no higher risk for any ethnic group. Children affected by DMD may have some degree of cognitive problems, yet some have average or even higher-than-average intelligence.

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Complications

Trouble walking. Some people with muscular dystrophy eventually need to use a wheelchair.

Trouble using arms. ...

Shortening of muscles or tendons around joints (contractures). ...

Breathing problems. ...

Curved spine (scoliosis). ...

Heart problems. ...

Swallowing problems.

Prevention

there isn't anything you can do to prevent getting muscular dystrophy. If you have the disease, these steps can help you enjoy a better quality of life: Eat a healthy diet to prevent malnutrition. Drink lots of water to avoid dehydration and constipation.

DMD is a genetic disorder, you can't do much to prevent it. But if DMD runs in your family, you may consider talking with a genetic counselor and getting testing before having children.