Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies

Muscle Nerve. 1990 Jun;13(6):516-27. doi: 10.1002/mus.880130608.


In a new, typical case of Schwartz-Jampel syndrome (SJS) the origin of the disorder was found to be purely myogenic. Concentric needle EMG showed abundant and persistent spontaneous activity, maximal at insertion, and uninfluenced by local curarization. Single-fiber EMG showed rather stable, sometimes intermittent, discharge series with occasional amplitude and/or frequency fluctuations. It could be demonstrated that this activity did not consist of complex repetitive discharges, but of independent activity of individual muscle fibers. This contrasts with findings by other investigators that have been published in this journal. Light microscopic studies of quadriceps and intercostal muscles showed no abnormalities, whereas electron-microscopic findings were in accordance with earlier studies in SJS. Endplate analysis revealed no specific changes; the postsynaptic structures gave the impression of an accelerated-maturation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Biopsy
  • Child, Preschool
  • Electromyography
  • Humans
  • Infant
  • Male
  • Muscles / pathology
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology
  • Myotonia / diagnosis
  • Myotonia / genetics
  • Myotonia / pathology
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / pathology