Advertisement
Research Article| Volume 64, ISSUE 1, P79-87, April 1984

Severe muscular dystrophy in girls

  • David Gardner-Medwin
    Correspondence
    Correspondence to: Dr. D. Gardner-Medwin, Regional Neurological Centre, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne NE4 6BE, Great Britain.
    Affiliations
    Department of Neurology, Newcastle General Hospital, Newcastle upon Tyne NE4 6BE Great Britain
    Search for articles by this author
  • Heather M. Johnston
    Footnotes
    Affiliations
    Department of Child Health, Newcastle General Hospital, Newcastle upon Tyne NE4 6BE Great Britain
    Search for articles by this author
  • Author Footnotes
    ∗ Present address: Department of Paediatric Neurology, The Prince of Wales Children's Hospital, Randwick, N.S.W., Australia.
DOI:https://doi.org/10.1016/0022-510X(84)90058-3
Severe muscular dystrophy in girls
Previous ArticleLipid myopathy
Next ArticleFamilial intermittent ataxia with possible X-linked recessive inheritance
      This paper is only available as a PDF. To read, Please Download here.

      Abstract

      Twelve girls and 2 boys with severe but not congenital muscular dystrophy were found in a national survey. An autosomal recessive gene is likely to account for most if not all of these cases. The condition differs slightly from X-linked Duchenne muscular dystrophy in showing prominent early toe-walking, a milder course, relatively more weakness of the deltoid muscles, normal intelligence, a normal ECG and a more focal pattern of muscle pathology.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Journal of the Neurological Sciences
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Register: Create an account
      Institutional Access: Sign in to ScienceDirect

      References

        • Dubowitz V.
        Muscle Disorders in Childhood.
        Saunders, London1979
        • Gardner-Medwin D.
        The natural history of Duchenne muscular dystrophy.
        in: Topics in Child Neurology. Vol 2. SP Medical and Scientific Books, New York1982: 17-29
        • Gardner-Medwin D.
        • Bundey S.
        • Green S.
        Early diagnosis of Duchenne dystrophy.
        Lancet. 1978; i (letter): 1102
        • Gomez M.R.
        • Engel A.G.
        • Dewald G.
        • Peterson H.A.
        Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins.
        Neurology (Minneap.). 1977; 27: 537-541
        • Gowers W.R.
        Pseudo-hypertrophic muscular paralysis.
        Lancet. 1879; ii: 1-2
        • Gowers W.R.
        Pseudo-hypertrophic muscular paralysis.
        Lancet. 1879; ii: 37-39
        • Gull W.W.
        Case of progressive atrophy of muscles of the hands.
        Guy's Hosp. Rep. 1862; 8: 244-250
        • Hazama R.
        • Tsujihata M.
        • Mori M.
        • Mori K.
        Muscular dystrophy in six young girls.
        Neurology. 1979; 29: 1486-1491
        • Ionasescu V.
        • Zellweger H.
        Duchenne muscular dystrophy in young girls.
        Acta Neurol. Scand. 1974; 50: 619-630
        • Jackson C.E.
        • Carey J.H.
        Progressive muscular dystrophy — Autosomal recessive type.
        Paediatrics. 1961; 28: 77-84
        • Jacobs P.A.
        • Hunt P.A.
        • Mayer M.
        • Bart R.D.
        Duchenne muscular dystrophy in a female with an X/autosome translocation — Further evidence that the DMD locus is at Xp21.
        Amer. J. Hum. Genet. 1981; 33: 513-518
        • Johnston H.A.
        Severe muscular dystrophy in girls.
        J. Med. Genet. 1964; 1: 79-81
        • Kakulas B.A.
        • Cullity P.E.
        • Maguire P.
        Muscular dystrophy in young girls.
        in: Proc. Austr. Ass. Neurol.12. 1975: 75-79
        • Kloepfer H.W.
        • Talley C.
        Autosomal recessive inheritance of Duchenne-type muscular dystrophy.
        Ann. Hum. Genet. 1958; 22: 138-143
        • Meryon E.
        On granular and fatty degeneration of the voluntary muscles.
        Med.-Chir. Trans. (Lond.). 1852; 35: 73-85
        • Neligan G.
        • Prudham D.
        Norms for four standard developmental milestones by sex, social class and place in family.
        Develop. Med. Child Neurol. 1969; 11: 413-431
        • Penn A.S.
        • Lisak R.P.
        • Rowland L.P.
        Muscular dystrophy in young girls.
        Neurology (Minneap.). 1970; 20: 147-159
        • Salih M.A.M.
        • Omer M.I.A.
        • Bayoumi R.A.
        • Karran O.
        • Johnson M.
        Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.
        Develop. Med. Child Neurol. 1983; 25: 43-52
        • Shokeir M.H.K.
        • Kobrinsky N.L.
        Autosomal recessive muscular dystrophy in Manitoba Hutterites.
        Clin. Genet. 1976; 9: 197-202
        • Skyring A.
        • McKusick V.A.
        Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy.
        Amer. J. Med. Sci. 1961; 242: 534-547
        • Stern L.M.
        Four cases of Duchenne-type muscular dystrophy in girls.
        Med. J. Austral. 1972; 2: 1066-1069
        • Walton J.N.
        The inheritance of muscular dystrophy -- Further observations.
        Ann. Hum. Genet. 1956; 21: 40-58
        • Zatz M.
        • Vianna-Morgante A.M.
        • Campos P.
        • Diament A.J.
        Translocation (X;6) in a female with Duchenne muscular dystrophy -- Implications for the localisation of the DMD locus.
        J. Med. Genet. 1981; 18: 442-447

      Article info

      Footnotes

      ☆This work was supported financially by the Muscular Dystrophy Group of Great Britain.

      Identification

      DOI: https://doi.org/10.1016/0022-510X(84)90058-3

      Copyright

      © 1984 Published by Elsevier Inc.

      ScienceDirect

      Access this article on ScienceDirect

      The content on this site is intended for healthcare professionals.


      We use cookies to help provide and enhance our service and tailor content. To update your cookie settings, please visit the Cookie Preference Center for this site.
      Copyright © 2023 Elsevier Inc. except certain content provided by third parties.


      RELX