Objective: To describe the clinical findings of patients with spinal muscular atrophy (SMA) with survival motor neuron (SMN) gene deletion. Method: 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. Conclusion: The presence of a deletion in the SMN gene can help to confirm this diagnosis in unclear presentations.
CITATION STYLE
Alexandra, A. P., Ramos, V. G., & Cabello, P. H. (2005). Spinal muscular atrophy diagnostic difficulties. Arquivos de Neuro-Psiquiatria, 63(1), 145–149. https://doi.org/10.1590/s0004-282x2005000100026
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