Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Muscular Diseases > Myotonic Disorders Terms and Definitions




Myotonic Disorders

Medical Definition: Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition. These disorders may be associated with abnormal muscle SODIUM CHANNEL and CHLORIDE CHANNELS. MYOTONIC DYSTROPHY and MYOTONIA CONGENITA represent two relatively common forms of this disorder. Proximal myotonic myopathy often presents with myotonia and muscle pain in early adulthood and later in life thigh muscle weakness and cataracts develop. (From Adams et al., Principles of Neurology, 6th ed, p1392)
Also Called: Myotonia Fluctuans,Myotonic Myopathy, Proximal,Paramyotonia Congenita
Previously Indexed: Myotonic Dystrophy (1965-1999)
Myotonic Disorders Categories.
Canadian Medical Guide Definition Myotonia Congenita - A dominantly inherited muscle disease that begins in early childhood and is characterized by severe myotonia (delayed relaxation of a muscle) after forceful voluntary contractions. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. Myotonia typically becomes less severe with repetitive voluntary contractions of the affected muscles. Generalized myotonia (of Becker) is an autosomal recessive variant of myotonia congenita that may feature more severe myotonia and muscle wasting. (From Adams et al., Principles of Neurology, 6th ed, pp1476-7; Joynt, Clinical Neurology, 1997, Ch53, p18)

Myotonic Disorders Medical Definitions and Terms

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