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Muscular dystrophy

Superficial anteri...Superficial anterior muscles
Deep anterior musc...Deep anterior muscles
Tendons and muscleTendons and muscles
Lower leg musclesLower leg muscles

Inherited myopathy; MD

Definition

Muscular dystrophy (MD) is a group of inherited disorders that cause muscle weakness and loss of muscle tissue, which get worse over time.

Causes

Inherited conditions are passed down through families. They may become manifest in childhood or adulthood. There are many different types of MD. They include:

Becker muscular dystrophy
Duchenne muscular dystrophy
Emery-Dreifuss muscular dystrophy
Facioscapulohumeral muscular dystrophy
Limb-girdle muscular dystrophy
Oculopharyngeal muscular dystrophy
Myotonic muscular dystrophy

Symptoms

MD can affect adults, but the more severe forms tend to occur in early childhood.

Symptoms vary among the different types of MD. All of the muscles may be affected. Or, only specific groups of muscles may be affected, such as those around the pelvis, shoulder, or face. The muscle weakness slowly gets worse and symptoms may include:

Delayed development of muscle motor skills
Difficulty using one or more muscle groups
Drooling
Eyelid drooping (ptosis)
Frequent falls
Loss of strength in a muscle or group of muscles as an adult
Loss in muscle size
Problems walking (delayed walking)
Muscle contractures

Intellectual disability is present in some types of MD.

Several types of MD affect only males.

Exams and Tests

A physical examination and your medical history will help your health care provider determine the type of MD. Specific muscle groups are affected by different types of MD.

The exam may show:

Weakness of certain muscles
Abnormally curved spine (scoliosis)
Joint contractures (clubfoot, claw-hand, or others)
Low muscle tone (hypotonia)

Some types of MD involve the heart muscle, causing cardiomyopathy or abnormal heart rhythm (arrhythmia).

Often, there is a loss of muscle mass (wasting). This may be hard to see because some types of MD cause a buildup of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.

A muscle biopsy may be used to confirm the diagnosis. In some cases, a DNA blood test may be all that is needed.

Other tests may include:

Heart testing -- electrocardiography (ECG)
Nerve testing -- nerve conduction and electromyography (EMG)
Urine and blood testing, including creatine phosphokinase (CPK) level
Genetic testing for some forms of MD
Muscle biopsy

Treatment

There are no known cures for the various MDs. Recent advances have led to some gene therapies that are promising for the future. The goal of treatment is to control symptoms.

Physical therapy may help maintain muscle strength and function. Leg braces and a wheelchair can improve mobility and self-care. In some cases, surgery on the spine or legs may help improve function.

Corticosteroids taken by mouth are sometimes prescribed to children with certain MDs to keep them walking for as long as possible.

The person should be as active as possible. No activity at all (such as bedrest) can make the disease worse.

Some people with breathing weakness may benefit from devices to assist breathing.

Support Groups

You can ease the stress of illness by joining a support group where members share common experiences and problems.

Outlook (Prognosis)

The severity of disability depends on the type of MD. All types of MD slowly get worse, but how fast this happens varies widely.

Some types of MD, such as Duchenne muscular dystrophy in boys, are associated with a shortened lifespan. Other types cause little disability and people have a normal lifespan.

When to Contact a Medical Professional

Contact your provider if:

You have symptoms of MD.
You have a personal or family history of MD and you are planning to have children.

Prevention

Genetic counseling is advised when there is a personal or family history of MD. Women may have no symptoms, but still carry the gene for the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies done during pregnancy.

References

Manzur AY. Muscular dystrophies. In: Kliegman RM, St. Geme JW, Blum NJ, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 649.

Selcen D. Muscle diseases. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 389.

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Review Date: 3/31/2024

Reviewed By: Joseph V. Campellone, MD, Department of Neurology, Cooper Medical School at Rowan University, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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