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Muscular dystrophy (MD) is a group of more than 30 genetic diseases that cause muscle weakness. The weakness worsens over time and can make walking and everyday activities hard. Some types affect other organs too.
Common types
| Type | Key features |
|---|---|
| Duchenne | the most common childhood form; severe; affects boys more often than girls; symptoms usually start between ages 3 and 6 |
| Becker | like Duchenne but milder and slower to progress; often starts in the teens |
| Congenital | present at birth or before age 2; mild or severe |
| Facioscapulohumeral | often starts in the teens, first affecting muscles of the face, shoulders and upper arms |
Types differ in who gets them, which muscles they affect, when they appear (infancy to later life), how severe and how fast they are, whether they run in families, and whether they affect other organs. Even people with the same type can have different symptoms.
Cause
MD is genetic: it is caused by changes (variants or mutations) in one or more genes that affect proteins that strengthen and protect muscles. Each type has its own gene changes — and people with the same type can have different ones. MD can run in families, or a person can be the first in their family to have it.
Diagnosis
A provider may use:
- a medical and family history and a physical exam;
- blood and urine tests, including genetic tests and tests for enzymes released by damaged muscle;
- a muscle biopsy;
- electromyography and nerve conduction studies, to see whether muscles respond properly to nerve signals;
- heart tests such as an electrocardiogram (EKG), since some types affect the heart;
- exercise tests of muscle strength and breathing, and of certain chemicals after exercise;
- MRI and other imaging to check muscle quality and bulk and measure fat replacing muscle.
Treatment
There is no cure, but treatment eases symptoms and prevents complications, usually through a combination of:
| Therapy | Purpose |
|---|---|
| Physical therapy | keep muscles flexible and strong |
| Occupational therapy | relearn motor skills and work around weak muscles |
| Respiratory care | breathing exercises, oxygen, ventilators |
| Speech therapy | speech and swallowing problems |
| Assistive devices | wheelchairs, splints, braces, walkers |
| Medicines | slow muscle damage or ease symptoms |
| Surgery | for related conditions such as heart problems, scoliosis and cataracts |
Sources
Based on "Muscular Dystrophy," MedlinePlus, U.S. National Library of Medicine, with its summary from the NIH National Institute of Neurological Disorders and Stroke; a work of the United States government in the public domain.
Licenza: CC0 1.0 (pubblico dominio) · Tratto da medlineplus.gov
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