[Diagnostic difficulties in spinal muscular atrophy].
OBJECTIVE
To describe the clinical findings of patients with spinal muscular atrophy (SMA) with survival motor neuron (SMN) gene deletion.


METHODS
Descriptive study of SMA cases confirmed with the deletion of the SMN gene. Frequency determination of positive clinical and laboratory revised diagnostic criteria.


RESULTS
All of the 22 included patients had symmetrical muscle weakness, which was diffuse in those with onset of symptoms up to 6 months of age (75 %), and either proximal or predominant in lower limbs in the remaining group (67 %). Fasciculations and atrophy were both frequent findings (82 %). Laboratory tests findings were variable, with a positivity of 57 % for electrophysiology and of 58 % for muscle biopsy.


CONCLUSIONS
The presence of a deletion in the SMN gene can help to confirm this diagnosis in unclear presentations.
Araújo
Alexandra Prufer de Q-C
AP
Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Ramos
Vivianne Galante
VG
Cabello
Pedro Hernán
PH
D017668:Age of Onset; D001706:Biopsy; D003430:Cross-Sectional Studies; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D004576:Electromyography; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D055532:SMN Complex Proteins
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins