Objective   To report a Chinese family with distal hereditary motor neuronopathy V  (dHMN-V) and to study its relation with mutations of BerardinelliSeip congenital lipodystrophy 2 (BSCL2) and glycyl tRNA synthetase (GARS) genes.  Methods   Clinical and electrophysiological examination was performed for the family members with dHMN-V. Mutations of 17 extrons in BSCL2 gene and 3 extrons in GARS gene were detected by direct PCR sequencing.  Results   The main clinical symptom of 13 members in in this family including 5 generations was the disease occurred at adult age

which was first manifested as atrophy involving the greater thenar muscle in one or two hands

followed by the lesser thenar and dorsal interosseus muscles of hands and interosseus muscles of feet. The hands cramped when they were exposed to cold. Electrophysiolography showed that the motor nerve conduction velocity was decreased while the sensory nerve conduction velocity was basically normal. Mutation analysis showed that no pathogenetic mutations but 3 GARS polymorphisms (IVS18+136G→A，IVS17-6C→T and C.-39G C) were detected in the BSCL2 and GARS genes of this family. IVS18+136G→A and IVS17-6C→T were found to be new polymorphisms.  Conclusion   dHMN-V is of clinical and genetic heterogeneity and may have locations of new gene besides BSCL2 and GARS genes.