Very severe spinal muscular atrophy [type 0]: a report of three cases
IJCN-Iranian Journal of Child Neurology. 2010; 4 (2): 51-53
in English
| IMEMR
| ID: emr-117733
ABSTRACT
We describe three patients with very severe Spinal Muscular Atrophy [SMA] presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. In all infants, electrodiagnostic studies were compatible with a neurogenic pattern. In genetic studies, all cases had homozygous deletions of exons 7 and 8 of Survival Motor Neuron [SMN] and exon 5 of Neuronal Apoptosis Inhibitory Protein [NAIP] gene. SMA should be considered in the differential diagnosis of reduced fetal movement and respiratory insufficiency at birth
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Muscular Atrophy, Spinal
/
Fetal Movement
Type of study:
Case report
Limits:
Female
/
Humans
/
Infant
/
Male
Language:
English
Journal:
Iran. J. Child Neurol.
Year:
2010
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