title: [Diagnostic difficulties in spinal muscular atrophy].
abstract: 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.
authors.affiliation: Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Alexandra Prufer de Q-C
authors.initials: AP
authors.lastname: Araújo
authors.forename: Vivianne Galante
authors.initials: VG
authors.lastname: Ramos
authors.forename: Pedro Hernán
authors.initials: PH
authors.lastname: Cabello
mesh_terms: 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
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins