Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred / Mustafa A. M. SALIH in Developmental Medicine & Child Neurology, 25-1 (February 1983)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 25-1 (February 1983) . - p.43-52 Titre : Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred Type de document : Texte imprimé et/ou numérique Auteurs : Mustafa A. M. SALIH, Auteur ; Mohamed Ibrahim A. OMER, Auteur ; Riad A. BAYOUMI, Auteur ; Omer KARRAR, Auteur ; M. JOHNSON, Auteur Année de publication : 1983 Article en page(s) : p.43-52 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The clinical manifestations, biochemical, electrocardiographic, histological and histochemical features of a severe autosomal recessive muscular dystrophy (MD)--as seen in 15 members of a large Sudanese kindred, both male and female--are reported and discussed. The age of onset ranged from three to five years, the pattern of muscular weakness was similar to that of Duchenne MD and pseudohypertrophy was a remarkable feature. Both sexes became completely dependent by 16 years, and died at or before 20 years of age. The clinical picture in this family and the histological features are compared with those of Duchenne MD and with cases reported from Tunisia, Qatar and Libya. Certain clinical and histological features distinguish all of these types from each other and from the milder autosomal recessive MD of childhood which is more usual in the United Kingdom, Europe, Australia and North America. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559 [article] Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred [Texte imprimé et/ou numérique] / Mustafa A. M. SALIH, Auteur ; Mohamed Ibrahim A. OMER, Auteur ; Riad A. BAYOUMI, Auteur ; Omer KARRAR, Auteur ; M. JOHNSON, Auteur . - 1983 . - p.43-52. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 25-1 (February 1983) . - p.43-52 Index. décimale : PER Périodiques Résumé : The clinical manifestations, biochemical, electrocardiographic, histological and histochemical features of a severe autosomal recessive muscular dystrophy (MD)--as seen in 15 members of a large Sudanese kindred, both male and female--are reported and discussed. The age of onset ranged from three to five years, the pattern of muscular weakness was similar to that of Duchenne MD and pseudohypertrophy was a remarkable feature. Both sexes became completely dependent by 16 years, and died at or before 20 years of age. The clinical picture in this family and the histological features are compared with those of Duchenne MD and with cases reported from Tunisia, Qatar and Libya. Certain clinical and histological features distinguish all of these types from each other and from the milder autosomal recessive MD of childhood which is more usual in the United Kingdom, Europe, Australia and North America. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559

---

1 (1 - 1 / 1)