Contact Us | Patient Portal | Search:
Printer Friendly VersionEmail A FriendAdd ThisIncrease Text SizeDecrease Text Size

Muscular dystrophy

 

Definition

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

Alternative Names

Inherited myopathy, MD

Causes

Muscular dystrophies, or MD, are a group of inherited conditions, which means they are passed down through families. They may occur in childhood or adulthood. There are many different types of muscular dystrophy. They include:

Symptoms

Symptoms vary with the different types of muscular dystrophy.

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

Symptoms include:

  • Mental retardation (only present in some types of the condition)
  • Muscle weakness that slowly gets worse
    • 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)
Signs and tests

A physical examination and your medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.

The doctor's exam may show:

Some types of muscular dystrophy involve the heart muscle, causing cardiomyopathy or disturbed heart rhythm (arrhythmias).

Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build-up 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 - electromyography (EMG)
  • Blood testing - including CPK level
  • Genetic testing for some forms of muscular dystrophy

This disease may also alter the results of the following tests:

Support Groups

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

See: Muscular dystrophy - support group

Expectations (prognosis)

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

Some types of muscular dystrophy, such as Duchenne muscular dystrophy, are deadly. Other types cause little disability and people with them have a normal lifespan.

Calling your health care provider

Call your health care provider if:

  • You have symptoms of muscular dystrophy.
  • You have a personal or family history of muscular dystrophy and you are planning to have children.
Complications
  • Cardiomyopathy
  • Decreased ability to care for self
  • Decreased mobility
  • Lung failure
  • Tightening of muscles around the joints (contractures)
  • Mental impairment (varies)
  • Scoliosis
Treatments

There are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms.

Physical therapy may help patients maintain muscle strength and function. Orthopedic appliances such as braces and wheelchairs can improve mobility and self-care abilities. In some cases, surgery on the spine or legs may help improve function.

Corticosteroids taken by mouth are sometimes prescribed to children to keep them walking for as along as possible.

The person should be as active as possible. Complete inactivity (such as bedrest) can make the disease worse.

Prevention

Genetic counseling is advised when there is a family history of muscular dystrophy. 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 performed during pregnancy.

References

Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 608.


Review Date: 3/9/2010
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; Daniel B. Hoch, PhD, MD, Assistant Professor of Neurology, Harvard Medical School, Department of Neurology, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2009 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
MAIMONIDES
MEDICAL CENTER


Home Page
Why Choose Us
Donations
Website Terms of Use
PATIENT
INFORMATION


Visitor & Patient Info
Patient Portal
We Speak Your Language
Patient Privacy
Contact Us
KEY
INFORMATION


Find a Physician
Medical Services
Maimonides In the News
Directions & Parking
FOR HEALTH
PROFESSIONALS


Medical Education
Career Opportunities
Nurses & Physicians
Staff Intranet Access
Maimonides Medical Center    |    4802 Tenth Avenue    |    Brooklyn, NY 11219    |    718.283.6000    |