title: Mimic syndromes in sporadic cases of progressive spinal muscular atrophy.
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.
authors.affiliation: Department of Neurology (H2-222), Academic Medical Centre, 1100 DE Amsterdam, University of Amsterdam, the Netherlands. j.visser@amc.uva.nl
authors.forename: J
authors.initials: J
authors.lastname: Visser
authors.forename: R M
authors.initials: RM
authors.lastname: van den Berg-Vos
authors.forename: H
authors.initials: H
authors.lastname: Franssen
authors.forename: L H
authors.initials: LH
authors.lastname: van den Berg
authors.forename: O J
authors.initials: OJ
authors.lastname: Vogels
authors.forename: J H J
authors.initials: JH
authors.lastname: Wokke
authors.forename: J M B V
authors.initials: JM
authors.lastname: de Jong
authors.forename: M
authors.initials: M
authors.lastname: de Visser
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000175:diagnosis; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis*; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000175:diagnosis; D011446:Prospective Studies