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Am J Med Genet. 1989 Jul;33(3):328-35.

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

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1
Neuropediatric Division, Bambino Gesu' Hospital, Rome, Italy.

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.

PMID:
2801766
DOI:
10.1002/ajmg.1320330309
[Indexed for MEDLINE]
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