Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy

被引:0
作者
Fee, Dominic B. [1 ]
机构
[1] Univ Kentucky Chandler Med Ctr, Dept Neurol, Lexington, KY 40536 USA
关键词
D O I
10.1155/2012/726984
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of his age of onset, lack of family history, and benign appearing muscle biopsy. This case is one of the oldest onset of weakness in genetically confirmed FSH and highlights the recognized expansion in phenotype that has occurred since the advent of genetic testing.
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共 6 条
  • [1] Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy
    Figueroa, Juan J.
    Chapin, John E.
    [J]. JOURNAL OF NEUROLOGY, 2010, 257 (03) : 444 - 446
  • [2] GENETICS OF FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY - NEW MUTATIONS IN SPORADIC CASES
    GRIGGS, RC
    TAWIL, R
    STORVICK, D
    MENDELL, JR
    ALTHERR, MR
    [J]. NEUROLOGY, 1993, 43 (11) : 2369 - 2372
  • [3] A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
    Lemmers, Richard J. L. F.
    van der Vliet, Patrick J.
    Klooster, Rinse
    Sacconi, Sabrina
    Camano, Pilar
    Dauwerse, Johannes G.
    Snider, Lauren
    Straasheijm, Kirsten R.
    van Ommen, Gert Jan
    Padberg, George W.
    Miller, Daniel G.
    Tapscott, Stephen J.
    Tawil, Rabi
    Frants, Rune R.
    van der Maarel, Silvere M.
    [J]. SCIENCE, 2010, 329 (5999) : 1650 - 1653
  • [4] Facioscapulohumeral muscular dystrophy
    Padberg, George W.
    van Engelen, Baziel G. M.
    [J]. CURRENT OPINION IN NEUROLOGY, 2009, 22 (05) : 539 - 542
  • [5] Facioscapulohumeral muscular dystrophy
    Tawil, Rabi
    Van der Maarel, Silvere M.
    [J]. MUSCLE & NERVE, 2006, 34 (01) : 1 - 15
  • [6] ZATZ M, 1995, AM J HUM GENET, V56, P99