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检索条件"作者=Luo Wei Ouyang Zhiyuan GUO Yi CHENG Yuanshen DING meiping department of Neurology,Second Affiliated Hospital,school of medicine,Zhejiang university,Hangzhou"

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Spinal muscular atrophy with sporadic olivopontocerebellar atrophy

Spinal muscular atrophy with sporadic olivopontocerebellar a...

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2007年浙江省神经病学学术年会

作者： luo wei ouyang zhiyuan guo yi cheng yuanshen ding meiping department of neurology,second affiliated hospital,school of medicine,zhejiang university,hangzhou

Spinal muscular atrophy(SMA)is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal cord anterior hom cells,leading to muscular *** combinations of SMA with neural and extraneural defects,mainly pontocerebellar hypoplasia,have been ***,reports of the SMA with pontocerellar hypoplasia were all in *** we report a combination of adult SMA with sporadic olivopontocerebellar atrophy(sOPCA)in a *** our knowledge,this is the first case report on both adult SMA and sOPCA. The patient was aged 68 with no family history of neurological disease,parental consanguinity,or SMA *** the age of 20,the patient presented with progressively proximal muscle weakness and atrophy of the fight upper limb,but it was not *** age 66,approximately 46 years afar the disease onset,he presented with muscle weakness and atrophy in both the upper and lower limbs, but he still could walk without *** age 68,approximately 48 years after the disease onset,he could not walk without support,and it was hard for him to raise his *** had tremor at movement in his upper and lower limbs,and it was most evident in the fight upper limb.A neurological examination at age 68 revealed diffuse muscle atrophy(Fig.1)and decreased muscle strength in the upper and lower limbs, prominent in the proximal portions,and the right finger-to-nose test,heel-knee-tibia test and Romberg sign was *** was absence of Babinski *** had muscle faseieulation in the tongue and right lower *** was no sensory disability and the deep tendon was *** was neither dysphagia nor *** revealed eerebellar atrophy,also in the vermis,and brainstem atrophy,which was particularly evident in the pons belly(Fig.2).The EMG showed chronic active denervation of the muscles, with spontaneous activity(fibrillations and positive waves),and faseieulation *** motor action potential had slightly reduced

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