Clinical and electrophysiological analysis of limb-girdle muscular dystrophy:A geneological report / 中华物理医学与康复杂志

ABSTRACT

Objective To analyze the clinical and electrophysiological features of one geneology with limbgirdle muscular dystrophy(LGMD). Methods Twenty-seven members of one family with limb-girdle muscular dystrophy(LGMD)were investigated.Fourteen of them were examined with electromyography(EMG)and their motor conduction velocities(MCV)and sensory conduction velocities(SCV)were measured.Among them,10 had no clinical manifestations,while 4 demonstrated symptoms and signs of LGMD. Results Three of the 4 patients had suffered from LGMD when young.They demonstrated the typical clinical features,including the progressive muscle weakness in the upper and lower extremities,positive Gower signs,duck gait,muscle atrophy distributed tO the proximal extremity,and no gastrocnemius hypertrophy.One subject presented atypical characteristics.The MCVs and SCVs of the 4 patients were normal,but neuropathic manifestations were found in the EMGS of 3 of them.and mixed neuropathic and myopathic manifestations were found in the EMG of the other.Conclusion LGMD patients in the same family can vary in their clinical characteristics.The longer the duration,the more severe the clinical features.Electrophysiological examination can reveal normal MCV and SCV but abnormal elctromyography.