Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies Terms and Definitions




Muscular Dystrophies

Medical Definition: A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles (MUSCLE, SKELETAL).
Guide Notes: GEN: prefer specifics; do not confuse with MYOTONIC DYSTROPHY
Also Called: Distal Myopathies,Muscular Dystrophy, Limb-Girdle,Muscular Dystrophy, Scapuloperoneal
Muscular Dystrophies Categories.
Canadian Medical Guide Definition Glycogen Storage Disease Type VII - An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
Canadian Medical Guide Definition Muscular Dystrophy, Duchenne - An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Canadian Medical Guide Definition Muscular Dystrophy, Emery-Dreifuss - An X-linked recessive muscular dystrophy that may present in children or adults. The disease is characterized by a clinical triad: (1) CONTRACTURE of the elbows, ACHILLES TENDON, and posterior cervical muscles; (2) slowly progressive muscle atrophy and weakness; and (3) a cardiomyopathy usually presenting as an atrioventricular block (HEART BLOCK). The weakness initially affects the upper arm and chest muscles, followed by pelvic and leg muscle paresis. Sudden death (DEATH, SUDDEN, CARDIAC) may occur as the result of the cardiac conduction defect. (Adams et al., Principles of Neurology, 6th ed, p1419; Curr Opin Neurol 1997;10(5):421-425)
Canadian Medical Guide Definition Muscular Dystrophy, Facioscapulohumeral - An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicuaris oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
Canadian Medical Guide Definition Muscular Dystrophy, Oculopharyngeal - An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular distrophy.
Canadian Medical Guide Definition Myotonic Dystrophy - An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)

Muscular Dystrophies Medical Definitions and Terms

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