Literature DB >> 8650827

Myotonic dystrophy: relative sensitivity of symptoms signs and abnormal investigations.

M Avaria1, V Patterson.   

Abstract

Twenty-five symptoms, signs, and abnormal investigations were looked for in 20 patients with clinically-definite myotonic dystrophy. Weakness of facial muscles, neck flexors, and arm external rotators was found in all patients (sensitivity = 100%). Arm external rotation has not been reported as a frequently involved muscle in previous clinical studies on myotonic dystrophy. Careful examination of muscle strength may therefore predict which patients may or may not carry the abnormal gene for myotonic dystrophy.

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Year:  1994        PMID: 8650827      PMCID: PMC2448763     

Source DB:  PubMed          Journal:  Ulster Med J        ISSN: 0041-6193


  2 in total

1.  Unstable DNA sequence in myotonic dystrophy.

Authors:  H G Harley; S A Rundle; W Reardon; J Myring; S Crow; J D Brook; P S Harper; D J Shaw
Journal:  Lancet       Date:  1992-05-09       Impact factor: 79.321

2.  Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms.

Authors:  T Ashizawa; J F Hejtmancik; J Liu; M B Perryman; H F Epstein; D D Koch
Journal:  Am J Med Genet       Date:  1992-01-01
  2 in total
  2 in total

1.  Steinert's disease.

Authors:  Taro Shimizu; Hideo Nozaki; Yasuharu Tokuda
Journal:  BMJ Case Rep       Date:  2013-11-11

2.  Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration.

Authors:  Antonio Jimenez-Marin; Ibai Diez; Garazi Labayru; Andone Sistiaga; Maria C Caballero; Pol Andres-Benito; Jorge Sepulcre; Isidro Ferrer; Adolfo Lopez de Munain; Jesus M Cortes
Journal:  Neuropathol Appl Neurobiol       Date:  2021-05-17       Impact factor: 6.250

  2 in total

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