Disease or Syndrome
muscular dystrophy
mus·cu·lar dys·tro·phy
Subclass of:
Muscular Disorders, Atrophic;
Genetic Diseases, Inborn
Also called:
MD
Definitions related to muscular dystrophy:
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A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.NCIU.S. National Cancer Institute, 2021
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General term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles.CRISP ThesaurusNational Institutes of Health, 2006
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Muscular dystrophy (MD) is a group of more than 30 genetic diseases. They cause weakness of the muscles. Over time, the weakness gets worse and can cause trouble walking and doing daily activities. Some types of MD can also affect other organs. There are many different types of MD. Some of the more common types include: Duchenne muscular dystrophy, which is the most common childhood form. It is severe and affects boys more often than girls. The symptoms usually start between ages 3 and 6.; Becker muscular dystrophy, which is similar to Duchenne but is less severe and gets worse more slowly. It often starts in the teenage years.; Congenital muscular dystrophies, which are present at birth or before age 2. They can be mild or severe.; Facioscapulohumeral muscular dystrophy, which often starts in the teenage years. At first, it affects the muscles of the face, shoulders, and upper arms. Each of the types of MD can be different in many ways, such as: Who is more likely to get them; Which muscles they affect; When they appear, such as in infancy, childhood, middle age, or later; What the symptoms are; How serious the symptoms are; How quickly they get worse; Whether they run in families; Whether they affect other organs. Even within the same type of MD, people can have different symptoms. MD is genetic, meaning that it caused by a change in one or more genes. Gene changes are also called gene variants or mutations. The gene changes in MD affect proteins that strengthen and protect muscles. There are different gene changes that cause each type of MD. And sometimes people who have the same type of MD can have different gene changes. Muscular dystrophy can run in families, or you can be the first in your family to have a muscular dystrophy. To find out if you or your child has MD, your health care provider may use: A medical and family history; A physical exam; Blood and urine tests, including genetic tests and tests for certain enzymes that may be released by damaged muscles; Muscle biopsies; Electromyography and nerve conduction studies to find out if muscles are responding the right way to nerve signals; Heart testing, such as an electrocardiogram (EKG), since some types of MD can cause heart problems; Exercise tests to measure muscle strength and breathing and detect any increased rates of certain chemicals following exercise; Imaging tests such as an MRI to look at muscle quality and bulk and measure fatty replacement of muscle tissue. There is no cure for muscular dystrophy. Treatment can help with the symptoms and prevent complications. It usually includes a combination of therapies, such as: Physical therapy to help keep muscles flexible and strong; Occupational therapy to relearn lost motor skills and learn ways to work around weakened muscles; Respiratory care, such as breathing exercises, oxygen therapy, and ventilators; Speech therapy to help with speech and swallowing problems; Assistive devices, such as wheelchairs, splints and braces, and walkers; Medicines to help delay damage to muscles or minimize the symptoms of MD; Surgery to treat some of the conditions associated with MD, such as heart problems, scoliosis, and cataracts. NIH: National Institute of Neurological Disorders and StrokeMedlinePlusU.S. National Library of Medicine, 2025
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The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2025
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(muscular dystrophies) A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2025
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Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. The disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations.WebMD, 2025
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Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.Mayo Foundation for Medical Education and Research, 2025
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Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in...National Center for Advancing Translational Sciences
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Muscular dystrophies are progressive, generalized diseases of muscle, most often caused by defective or specifically absent glycoproteins (e.g., dystrophin) in the muscle membrane. All muscular dystrophies are characterized by ongoing degeneration and regeneration of muscle fibers. The most common and rapidly progressive muscular...Athenahealth, Inc., 2019
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Muscular dystrophy, hereditary disease that causes progressive weakness and degeneration of the skeletal muscles. Of the several types of muscular dystrophy, the more common are Duchenne, facioscapulohumeral, Becker, limb-girdle, and myotonic dystrophy. In all of these there is usually early...Encyclopedia Britannica, Inc., 2025
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