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myopathy generally refers to acquired or congenital muscle disorders that typically do not
demonstrate ongoing cycles of degeneration/regeneration, but still result in weakness and
disability due to loss of contractile function. Some MDs and myopathies affect cardiac and
smooth muscle, in addition to other organs, including the brain.
The major forms of MD include Duchenne MD (DMD), Becker MD (BMD), limb-girdle MD
(LGMD), facioscapulohumeral dystrophy (FSHD), myotonic dystrophy type 1 (DM1),
myotonic dystrophy type 2 (DM2), congenital MD (CMD), oculopharyngeal MD (OPMD),
distal MD (DMD), and Emery-Dreifuss MD (EDMD).
Some forms of MD appear at birth, while others become apparent during infancy, early
childhood, adolescence, middle age, or later. The phenotypic severity is largely determined
by the age at which the disorder first occurs, with early-onset disease typically resulting in
more disability compared with late-onset disease. MD may result from spontaneous
mutations, occurring de novo in an otherwise clear family line, or may be inherited. Forms of
inheritance include autosomal dominant and recessive or sex linked.
Physicians
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Treatment should be goal-oriented, with clear input regarding the patients expectations and
personal goals. Although NMDs are not curable, they are treatable and do respond to
rehabilitation. Ideally, because of the significant mobility problems associated with most
NMDs, all key clinic personnel should be available at each visit. Tertiary care medical centers
in larger urban areas can usually provide this type of service.
A number of organizations sponsor research and clinical care for people with NMDs,
including the following (among others):
Charcot-Marie-Tooth Association
Facioscapulohumeral Society
Governmental agencies that support research in NMDs include the National Institute on
Disability and Rehabilitation Research, a division of the Department of Education, and the
National Institutes of Health.