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Review
. 1991;1(1):19-29.
doi: 10.1016/0960-8966(91)90039-u.

Population frequencies of inherited neuromuscular diseases--a world survey

A E Emery  1
Affiliations
Review

Population frequencies of inherited neuromuscular diseases--a world survey

A E Emery. Neuromuscul Disord. 1991.

Abstract

A survey of the world literature, involving over 150 reported studies, of the population frequencies of various inherited neuromuscular diseases has been carried out. Data are presented for the commoner forms of muscular dystrophy (Duchenne, Becker, facioscapulohumeral, limb girdle), myotonic dystrophy and congenital myotonias, proximal spinal muscular atrophies, and the hereditary motor and sensory neuropathies. A conservative estimate of the overall prevalence among both sexes is around 286 x 10(-6), that is 1 in 3500 of the population may be expected to have a disabling inherited neuromuscular disease presenting in childhood or in later life. If severe disorders manifest only in infancy and early childhood (e.g. Werdnig-Hoffmann disease and severe congenital muscular dystrophy) and the rare forms of dystrophy and myopathy are also included, then the overall prevalence could well exceed 1 in 3000.

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