RESUMO
Objective To analyze the clinical feature,serum examination,EMG of Kennedy'Disease to reduce misdiagnosis of Kennedy's Disease.Methods Five cases of Kennedy's disease were confirmed by genetic test.The clinical data was analyzed including clinical features,laboratory findings,EMG characteristics and determination of AR gene exon 1 CAG repeat sequence.Results These cases were male without an obvious positive family history.The average age of onset was 39.8 ±7.2 years old and the average duration from onset to diagnosis was 9 ±5.2 years.Onset symptoms included Lower limbs weakness in 3 cases,facial fasciculationin 1 cases and gynecomastia in 1 case.The most prominent clinical manifestations were tongue muscle atrophy,tongue muscle fibrillation and proximal limb muscle weakness.In addition,these 5 cases did not have clinical manifestation of sensation loss nor EMG evidence of abnormal sensation.Conclusion Kennedy's disease is a neurodegenerative disease characterized by lower motor neuron damage.The clinical features of these 5 cases are approximately the same as those reported in previous literatures.Although the patients have been reported to have abnormal sensation,the present study indicates that some patients with Kennedy's disease may not present with abnormal sensation and that the diagnosis of Kennedy's disease depends on the genetic test.
RESUMO
Objective To analyze the clinical feature,serum examination,EMG of Kennedy'Disease to reduce misdiagnosis of Kennedy's Disease.Methods Five cases of Kennedy's disease were confirmed by genetic test.The clinical data was analyzed including clinical features,laboratory findings,EMG characteristics and determination of AR gene exon 1 CAG repeat sequence.Results These cases were male without an obvious positive family history.The average age of onset was 39.8 ±7.2 years old and the average duration from onset to diagnosis was 9 ±5.2 years.Onset symptoms included Lower limbs weakness in 3 cases,facial fasciculationin 1 cases and gynecomastia in 1 case.The most prominent clinical manifestations were tongue muscle atrophy,tongue muscle fibrillation and proximal limb muscle weakness.In addition,these 5 cases did not have clinical manifestation of sensation loss nor EMG evidence of abnormal sensation.Conclusion Kennedy's disease is a neurodegenerative disease characterized by lower motor neuron damage.The clinical features of these 5 cases are approximately the same as those reported in previous literatures.Although the patients have been reported to have abnormal sensation,the present study indicates that some patients with Kennedy's disease may not present with abnormal sensation and that the diagnosis of Kennedy's disease depends on the genetic test.