Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy

E. Bertini, J. L. Gadisseux, G. Palmieri, E. Ricci, M. Di Capua, G. Ferriere, G. Lyon

Research output: Contribution to journalArticlepeer-review

Abstract

We report the clinical, electrophysiological, and morphological observations of five infants with an unusual form of spinal muscular atrophy (SMA). In these infants muscular weakness and atrophy were initially restricted to the distal limbs and this pattern was associated with paralysis of the diaphragm. The difference between the clinical manifestations of this syndrome and the classical form of infantile spinal muscular atrophy (SMA type 1) as well as other congenital hereditary neuropathies is discussed.

Original languageEnglish
Pages (from-to)328-335
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume33
Issue number3
Publication statusPublished - 1989

ASJC Scopus subject areas

  • Genetics(clinical)

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