A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child

Michael H. Kohrman, Daniel L. Picchietti, Robert Wollmann, Ewa E. Chelmicka-Schorr

Research output: Contribution to journalArticlepeer-review


We report a case of Fukuyama congenital muscular dystrophy with inflammatory infiltrate on muscle biopsy in an American girl of non-Japanese ancestry. The child was hypotonic, had decreased muscle strength in all extremities, and poor head control. Her mental and motor development were delayed. She developed generalized seizures at 19 months of age. Her muscle enzymes were abnormal; cranial computed tomography demonstrated hypoplasia of the cerebellum. Electromyogram was normal. Deltoid muscle biopsy documented scattered basophilic regenerating myofibers and focal atrophic fibers with focal increases of endomysial connective tissue, small endomysial foci of inflammatory cells, and occasional perimysial, perivenular lymphocytic infiltrates. Prednisone therapy produced some decrease in serum muscle enzyme levels.

Original languageEnglish (US)
Pages (from-to)290-293
Number of pages4
JournalPediatric Neurology
Issue number5
StatePublished - 1986
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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