Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle: a case with esophagus involvement

L. G. Spagnoli, G. Palmieri, E. Bertini

Research output: Contribution to journalArticlepeer-review

Abstract

We report the case of a child with congenital neuromuscular disease characterized by neonatal onset of symptoms, a floppy syndrome with marked weakness of facial muscles, palsy of the velum pendulum and hypomotility of the esophagus. EMG was inconclusive. Serum enzyme levels were within the normal range. Muscle biopsy specimen showed uniform type 1 fibers, smallness of the occasionally observed type 2 fibers and slight ultrastructural changes in many fibers. On the basis of the clinical and morphological features we have included the present case among the group of non-progressive congenital neuromuscular diseases.

Original languageEnglish
Pages (from-to)317-321
Number of pages5
JournalItalian Journal of Neurological Sciences
Volume6
Issue number3
DOIs
Publication statusPublished - Sep 1985

Keywords

  • Congenital myopathies
  • muscular hypotonia
  • uniform type 1 fiber

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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