Clinical features of Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡ(report of 1 case) / 临床神经病学杂志

ABSTRACT

Objective To investigate the clinical characteristics of Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡ.Methods The clinical data of 1 case Kennedy disease with secondary mitochondrial dysfunction and glutaric aciduria typeⅡwas retrospectively analyzed.Results The patient presented muscle weakness in proximal limbs, fasciculation, bulbar palsy, amyotrophy, postural tremor, sensory disturbance, gynaecomastia, impotency.The level of serum creatine kinase and urinary glutaric acid were elevated. Electromyogram and nerve and muscle biopsy supported mixed damage in peripheral nerves, as well as neurogenic and secondary myogenic pathologic changes in muscles.Gene sequencing indicated trinucleotide CAG repeated amplification for 47 times in chromosome X.Diabetes was diagnosed at 7 years after onset.Conclusions The pathogenesis of Kennedy disease is very complex, which may involve myogenic factor.The treatment to the secondary mitochondrial and lipid metabolic disturbance in muscle can improve the muscle weakness to a certain extent.