Clinical characteristics of HMSN-P families with TFG gene (c.854C>T) mutation and related literature review

Objective To collect the clinical data of a rare hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) family and summarize the clinical characteristics based on TFG gene mutation. Methods The clinical data of 13 members of 4 generations (including 8 patients) who were originally diagnosed proband in the Affiliated Hospital of Xuzhou Medical University and their families were collected. DNA samples were collected from the peripheral blood of 10 members for high throughput sequencing and Sanger sequencing. Results The adult-onset proband presented 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 anterior horn of the spinal cord, and motor neuron disease was highly suggested. Other patients in the family showed similar symptoms to the proband, and some had significantly elevated levels of serum creatine kinase (CK). After sequencing, the TFG gene c. 854C>T heterozygous mutation was detected in all patients, and co-segregated with the disease phenotype, which was a known pathogenic mutation of HMSN-P. Conclusions Early weakness and atrophy of the proximal muscle with involvement of spinal anterior cells is a significant clinical feature of HMSN-P patients with TFG gene c. 854C>T heterozygous mutation, and muscle problems may accompany with in some patients.