Abstract:
Objevtive To analyze and summarize the clinical characteristics by collecting the clinical data of a rare hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) family ba<x>sed on the mutation of TFG gene.Methods The clinical data of 13 members of 4 generations (including 8 patients) from the first-diagnosed proband in our hospital and his families were collected, and DNA from peripheral blood of 10 of them was extracted for high throughput sequencing and sanger sequencing.Results The proband became ill in adulthood, with progressive weakness and atrophy of the proximal muscles of the extremities, accompanied by significant painful muscle spasms and muscle bundle tremors, early electromyography suggested the involvement of the spinal anterior cell,and motor neuron disease was highly suggested. Other patients in the family had similar symptoms to the proband, and some had significantly elevated serum creatine kinase (CK). The TFG gene c. 854C > T heterozygous mutation was observed in all the patients after sequencing and co-segregated with the disease phenotype. It was a known pathogenic mutation of HMSN-P.Conclusion Early proximal dominant muscle weakness and atrophy with spinal anterior cells involvement is a significant clinical feature of HMSN-P patients with TFG gene c. 854C > T heterozygous mutation, and some patients may present muscle involvement.