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 journalArticle

47 Citations (Scopus)

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

Fingerprint

Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophy
Diaphragm
Paralysis
Muscular Atrophy
Muscle Weakness
Extremities

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm : A variant of infantile spinal muscular atrophy. / Bertini, E.; Gadisseux, J. L.; Palmieri, G.; Ricci, E.; Di Capua, M.; Ferriere, G.; Lyon, G.

In: American Journal of Medical Genetics, Vol. 33, No. 3, 1989, p. 328-335.

Research output: Contribution to journalArticle

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