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Neurology 2002;58:1593-1596
© 2002 American Academy of Neurology
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Mimic syndromes in sporadic cases of progressive spinal muscular atrophy

J. Visser, MD, R. M. van den Berg-Vos, MD, H. Franssen, MD PhD, L. H. van den Berg, MD PhD, O. J. Vogels, MD PhD, J. H.J. Wokke, MD PhD, J. M.B.V. de Jong, MD PhD and M. de Visser, MD PhD

From the Departments of Neurology, Academic Medical Centre (Drs. Visser, de Jong, and de Visser), University of Amsterdam; University Medical Center Utrecht (Drs. van den Berg-Vos, Franssen, van den Berg, and Wokke); and University Hospital Nijmegen (Dr. Vogels), the Netherlands.

Address correspondence and reprint requests to Dr. J. Visser, Department of Neurology (H2-222), Academic Medical Center, P.O. Box 22700, 1100 DE Amsterdam, the Netherlands; e-mail: j.visser{at}amc.uva.nl

Abstract— Described are patients initially diagnosed with progressive spinal muscular atrophy (PSMA), in whom further evaluation established another diagnosis. The authors prospectively investigated incident and prevalent cases of PSMA. Seventeen of 89 patients, after initial registration, were later excluded because reassessment revealed a diagnosis other than PSMA. In 11 of the 17 patients with a revised diagnosis, a potential treatment was available: multifocal motor neuropathy (7), chronic inflammatory demyelinating polyneuropathy (2), inflammatory myopathy (1), and MG (1). Other misdiagnoses included myopathy, syringomyelia, ALS, idiopathic chronic axonal polyneuropathy, and idiopathic brachial plexus neuropathy. One patient with a possible herniated lumbar disk recovered spontaneously.




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