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Progressive Muscle Disease in a Young Woman With Family History of Duchenne's Muscular Dystrophy

Progressive Muscle Disease in a Young Woman With Family History of Duchenne's Muscular Dystrophy Abstract • A 16-year-old girl with an extensive family history of Duchenne's muscular dystrophy (DMD) had clinical and laboratory evidence of progressive muscle disease in preadolescence. Other female members of the kindred had exceptionally high creatine phosphokinase levels, and her mother was also symptomatic. Although manifesting carriers of DMD are common, they usually demonstrate a mild and static myopathy. This patient is unusual because her muscle disease was progressive and disabling. References 1. Emery AEH: Clinical manifestations in two carriers of Duchenne muscular dystrophy . Lancet 1963;1:1126-1128.Crossref 2. Milhorat AT, Goldstone L: The carrier state in muscular dystrophy of the Duchenne type . JAMA 1965;194:110-114.Crossref 3. Moser H, Emery AEH: The manifesting carrier in Duchenne muscular dystrophy . Clin Genet 1974;5:271-284.Crossref 4. Penn AS, Lisak RP, Rowland LP: Muscular dystrophy in young girls . Neurology 1970;20:147-159.Crossref 5. Emery AEH: Muscle histology in carriers of Duchenne muscular dystrophy . J Med Genet 1965;2:1-7.Crossref 6. Gomez MR, Engel AG, Dewald G, et al: Failure in inactivation of Duchenne dystrophy X-chromosome in one of identical twins . Neurology 1977;27:537-541.Crossref 7. Meola G, Scarpini E, Silano V, et al: Manifesting carrier of X-linked Duchenne muscular dystrophy . J Neurol Sci 1981;49:455-463.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Progressive Muscle Disease in a Young Woman With Family History of Duchenne's Muscular Dystrophy

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Publisher
American Medical Association
Copyright
Copyright © 1982 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1982.00510180056015
Publisher site
See Article on Publisher Site

Abstract

Abstract • A 16-year-old girl with an extensive family history of Duchenne's muscular dystrophy (DMD) had clinical and laboratory evidence of progressive muscle disease in preadolescence. Other female members of the kindred had exceptionally high creatine phosphokinase levels, and her mother was also symptomatic. Although manifesting carriers of DMD are common, they usually demonstrate a mild and static myopathy. This patient is unusual because her muscle disease was progressive and disabling. References 1. Emery AEH: Clinical manifestations in two carriers of Duchenne muscular dystrophy . Lancet 1963;1:1126-1128.Crossref 2. Milhorat AT, Goldstone L: The carrier state in muscular dystrophy of the Duchenne type . JAMA 1965;194:110-114.Crossref 3. Moser H, Emery AEH: The manifesting carrier in Duchenne muscular dystrophy . Clin Genet 1974;5:271-284.Crossref 4. Penn AS, Lisak RP, Rowland LP: Muscular dystrophy in young girls . Neurology 1970;20:147-159.Crossref 5. Emery AEH: Muscle histology in carriers of Duchenne muscular dystrophy . J Med Genet 1965;2:1-7.Crossref 6. Gomez MR, Engel AG, Dewald G, et al: Failure in inactivation of Duchenne dystrophy X-chromosome in one of identical twins . Neurology 1977;27:537-541.Crossref 7. Meola G, Scarpini E, Silano V, et al: Manifesting carrier of X-linked Duchenne muscular dystrophy . J Neurol Sci 1981;49:455-463.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Jun 1, 1982

References