MYOTONIA DYSTROPHICA: A CASE REPORT WITH SEX CHROMATIN STUDIES
Authors: James W. Ledwith, Robert J. Whipple
Journal: Annals of Internal Medicine (1961)

Case Reports1 January 1961MYOTONIA DYSTROPHICA: A CASE REPORT WITH SEX CHROMATIN STUDIESJAMES W. LEDWITH, ROBERT J. WHIPPLEJAMES W. LEDWITHSearch for more papers by this author, ROBERT J. WHIPPLESearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-54-1-113 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptMyotonia dystrophica is a familial, progressive myopathy associated with degenerative changes in other tissues. These include premature baldness, colloid goiter with a low basal metabolic rate, distinctive presenile cataracts, and testicular atrophy. Eventually myotonia develops, then progressive atrophy and weakness in selected muscle groups in the face, neck, and extremities. When the trait is fully expressed in a male, the testicular pathology is remarkably similar to that described in Klinefelter's syndrome.1, 2Since the discovery by Barr and his associates3that genetic sex can be determined by the presence or absence of a specific chromatin mass in the nuclei of...Bibliography1. KlinefelterReifensteinAlbright HFECF: Syndrome characterized by gynecomastia, aspermatogenesis, with a-leydigism and increased excretion of folliclestimulating hormone. J. Clin. Endocr. 2: 615, 1942. CrossrefGoogle Scholar2. NelsonHeller WOCG: Hyalinization of the seminiferous tubules associated with normal or failing Leydig-cell function. Microscopic picture in the testis and associated changes in the breast. J. Clin. Endocr. 5: 13, 1945. CrossrefGoogle Scholar3. BarrBertram MLEG: A morphology distinction between neurons of the male and female and the behavior of the nuclear satellite during accelerated nuclear protein synthesis. Nature (Lond.) 163: 676, 1949. 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Author, Article, and Disclosure InformationAffiliations: *Received for publication May 1, 1959.From the Medical Service, U. S. Naval Hospital, Portsmouth, Virginia.The opinions contained herein are those of the authors and do not necessarily reflect the view of the Navy Department.Requests for reprints should be addressed to Lt. Commander James W. Ledwith, USN, (MC), Staff, U. S. Naval Hospital, St. Albans 25, Long Island, N. Y. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byClinical Utilization of Alkaline Phosphatase MeasurementsConcurrence of myotonic dystrophy and XXY Klinefelter syndromeLes troubles endocriniens de la dystrophie myotonique (Maladie de Steinert)Myotonie und Klinefelter-SyndromMedical genetics 1961 1 January 1961Volume 54, Issue 1Page: 113-121KeywordsAtrophyChromatinEmbryosGenetic determinismGeneticsGenital anatomyMedical servicesMusclesMyotonic dystrophyTestes ePublished: 1 December 2008 Issue Published: 1 January 1961 PDF downloadLoading ...