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Pseudohypertrophic Muscular Dystrophy of Childhood: An epidemiological survey in Victoria
Author(s) -
Lawrence E. F.,
Brown B.,
Hopkins I. J.
Publication year - 1973
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1973.tb03967.x
Subject(s) - medicine , duchenne muscular dystrophy , muscular dystrophy , epidemiology , incidence (geometry) , pediatrics , population , disease , demography , environmental health , physics , sociology , optics
Summary: An epidemiological survey of pseudohypertrophic muscular dystrophy of childhood was carried out in Victoria in 1970. Ninety‐three affected children were ascertained of whom 88 were thought to represent the Duchenne type. The incidence figure obtained for the years 1957‐63 was one case per 4,600 live male births. The distribution of the disease in different racial groups was examined and an apparent higher incidence was noted in children of Maltese and Italian origin. Carrier detection studies, using estimations of serum creatine phosphokinase, were performed on female relatives of patients with Duchenne muscular dystrophy. Seventy‐two percent of proven carriers had elevated levels and it was calculated, for this population, that the risk of the mother of an isolated case (and having a normal CPK level) being a carrier of the gene was 1:10. Detailed social interviews were conducted with the families of the children and data obtained suggested that the major impact of the child with muscular dystrophy on the family is emotional rather than practical and financial. Many problems noted to exist appeared to be of long standing and were merely aggravated by the presence of a handicapped child.