MYOTONIA CONGENITA (THOMSEN'S DISEASE) Early Diagnosis in Infancy

S. HAREL, L. A. CHUI, Y. SHAPIRA

Research output: Contribution to journalArticlepeer-review

Abstract

Abstract. A family with myotonia congenita. (Thomsen's disease) is reported in which the father and his two offspring are affected. The course was characterized by the early onset of clinical manifestations in both the father and his two children. In one child, a clinical and electrical diagnosis of the disease was made as early as two weeks of age. Early manifestations were breathing difficulty and eye closure myotonia. The importance of early recognition of the disorder is emphasized.

Original languageEnglish
Pages (from-to)225-227
Number of pages3
JournalActa Paediatrica, International Journal of Paediatrics
Volume68
Issue number3
DOIs
StatePublished - May 1979
Externally publishedYes

Keywords

  • Myotonia
  • Thomsen's disease
  • congenital stridor

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