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Introduction to Inherited Muscular Disorders

By

Michael Rubin

, MDCM, New York Presbyterian Hospital-Cornell Medical Center

Last full review/revision Jul 2020| Content last modified Jul 2020
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Muscular dystrophies are inherited, progressive muscle disorders resulting from defects in one or more genes needed for normal muscle structure and function; dystrophic changes (eg, muscle fiber necrosis and regeneration) are seen on biopsy specimens. Facioscapulohumeral dystrophy is the most common form of muscular dystrophy, and Duchenne dystrophy and Becker dystrophy are the second most common. Duchenne dystrophy is a more severe form; Becker dystrophy, although closely related to Duchenne, has a later onset and causes milder symptoms.

Other forms include Emery-Dreifuss dystrophy, myotonic dystrophy, limb-girdle dystrophy, oculopharyngeal muscular dystrophy, and congenital dystrophies.

Muscular dystrophies are distinguished by the selective distribution of weakness and the specific nature of the genetic abnormality involved.

Other inherited muscular disorders include congenital myopathies, myotonia congenita, and familial periodic paralysis.

Inherited metabolic disorders affecting the muscles, such as mitochondrial oxidative phosphorylation disorders and glycogen storage diseases, are discussed elsewhere. Only those disorders that have all or most of their effects on muscle are discussed in this chapter.

Congenital muscular dystrophy

Congenital muscular dystrophy describes a rare group of diseases with symptoms evident at birth or shortly thereafter. The diseases are genetically recessive and manifest with diminished muscle tone, sometimes called "floppy baby." Diagnosis is based on clinical presentation, muscle biopsy, and blood tests to evaluate muscle proteins and genetic abnormalities. No cure exists; treatment is focused on preserving and optimizing function.

Congenital muscular dystrophy is not a single disorder but instead refers to muscular dystrophy evident at birth or in infancy, occurring from any of several rare forms of muscular dystrophy. All such dystrophies are genetically recessive and result from mutations in a variety of different genes including those that encode for structural proteins of the basal membrane or the extracellular matrix of skeletal muscle fibers.

The diagnosis of congenital muscular dystrophy is suspected in any floppy neonate but must be distinguished from a congenital myopathy by muscle biopsy. Blood tests to evaluate muscle proteins, ultrasonography and magnetic resonance imaging of muscle, and genetic testing when available, are typically done to arrive at an accurate diagnosis.

No specific treatment exists for congenital muscular dystrophies. Orthopedic, cardiac, respiratory, nutritional, and social issues may be addressed by appropriate experts as the needs arise, and supportive care, including physical therapy helps preserve function.

More Information

The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

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NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
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