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 language | English |
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Pages (from-to) | 328-335 |
Number of pages | 8 |
Journal | American Journal of Medical Genetics |
Volume | 33 |
Issue number | 3 |
Publication status | Published - 1989 |
ASJC Scopus subject areas
- Genetics(clinical)