Download PDF
Neuropediatrics 1988; 19(3): 132-134
DOI: 10.1055/s-2008-1052416
© Georg Thieme Verlag KG Stuttgart · New York

Progressive Myopathy in Trisomy 21

U.  Mielke1 , K.  Schimrigk1 , H.  Edlinger2
  • 1Department of Neurology, University of the Saarland, D-6650 Homburg/Saar, FRG
  • 2Department of Human Genetics, University of the Saarland, D-6650 Homburg/Saar, FRG
Further Information

Publication History

Publication Date:
19 May 2008 (online)

  PDF Download  Permissions and Reprints

Abstract

A 23-year-old female patient with clinical manifestations typical of Down's syndrome progressively developed intensifying weakness of the proximal muscles from the age of 16 years. CK levels were distinctly elevated. Electromyography showed myogenic lesions and muscle biopsy a myopathic image with extensive fibre hypertrophy. Progressive sporadic myopathy in association with Down's syndrome has not been reported previously.

Key words

Trisomy 21 - Myopathy - Fibre hypertrophy

      >