Bethlem myopathy in a Taiwanese family

L. M. Lien, C. C. Yang, W. H. Chen, H. C. Chiu

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

We report three cases of Bethlem myopathy from three consecutive generations of a Taiwanese family, including one woman aged 70, one man aged 40, and a boy aged 8. The clinical features of the patients included autosomal dominant inheritance, childhood or adolescent onset, mainly proximal and extensor involvement, early diffuse joint contractures, and absence of cardiac involvement. These features fulfilled the diagnostic criteria for Bethlem myopathy. Though the clinical course of the disease was once thought to be benign, our female patient became wheelchair-bound at the age of 53. This suggests that the disease process in Bethlem myopathy is slow but ongoing.

Original languageEnglish
Pages (from-to)416-419
Number of pages4
JournalJournal of the Formosan Medical Association = Taiwan yi zhi
Volume100
Issue number6
Publication statusPublished - 2001
Externally publishedYes

Keywords

  • Bethlem myopathy
  • Joint contracture

ASJC Scopus subject areas

  • Medicine(all)

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