title: Spinal muscular atrophy combined with sporadic olivopontocerebellar atrophy.
abstract: The combination of spinal muscular atrophy (SMA) with a variety of neural and extraneural defects, particularly pontocerebellar hypoplasia, has been reported. To date, all of the reported SMA with pontocerebellar hypoplasia was from infants; however, here we report a SMA with sporadic olivopontocerebellar atrophy (sOPCA) in an adult patient. The 68-year-old male patient displayed various clinical symptoms including progressive proximal muscle weakness, muscle atrophy and muscle fasciculation with a long course of disease. EMG demonstrated that amyotrophy was due to the impairment of lower motor neurons. The clinical symptoms and the EMG were consistent with the diagnosis of SMA. The presence of cerebellar ataxia, limb tremors, muscle atrophy and weakness in the patient led to the diagnosis of sOPCA that was confirmed by the MRI results. To our knowledge, this is the first case report of combination of SMA with sOPCA in an adult. It is yet unclear whether there is a common pathogenesis between the two diseases.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88 Jiefang Road, Hangzhou City 310009, Zhejiang Province, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
authors.forename: Zhiyuan
authors.initials: Z
authors.lastname: Ouyang
authors.forename: Yi
authors.initials: Y
authors.lastname: Guo
authors.forename: Yuanshen
authors.initials: Y
authors.lastname: Chen
authors.forename: Meiping
authors.initials: M
authors.lastname: Ding
mesh_terms: D000368:Aged; D004576:Electromyography; D004594:Electrophysiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018908:Muscle Weakness / Q000209:etiology; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000175:diagnosis; D009849:Olivopontocerebellar Atrophies / Q000150:complications* / Q000175:diagnosis