Hereditary neuropathy with liability to pressure palsies： A report of two cases and a literature review
10.19845/j.cnki.zfysjjbzz.2025.0125
- VernacularTitle:遗传性压迫易感性周围神经病2例报告并文献复习
- Author:
Chunbo JI
1
;
Ping YANG
2
Author Information
1. 宁夏医科大学第一临床医学院，宁夏 银川 750004
2. 宁夏医科大学总医院神经内科，宁夏 银川 750004
- Publication Type:Journal Article
- Keywords:
Hereditary neuropathy with liability to pressure palsies;
Peripheral myelin protein 22;
Electromyography findings;
Genetic testing
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(7):652-655
- CountryChina
- Language:Chinese
-
Abstract:
In this study， a retrospective analysis was performed for the clinical data and electromyography findings of two patients with genetically confirmed hereditary neuropathy with liability to pressure palsies （HNPP）. Electromyography examination showed that both patients had extensive peripheral nerve injuries involving motor and sensory nerve functions， and reductions in both MNCV and SNCV were observed at the sites with liability to nerve compression. Both patients carried heterozygous deletion mutations of the peripheral myelin protein 22 gene. This article analyzes the clinical manifestations， electromyography findings， and genetic testing results of two patients with HNPP and conducts a literature review， in order to provide a reference for the diagnosis， treatment， and prognosis of HNPP in clinical practice.
- Full text:2025081116225639426遗传性压迫易感性周围神经病2例报告并文献复习.pdf
