Abstract
Background: Hereditary-motoric sensory neuropathy (HSMN; also called Charcot-Marie-Tooth disease) is characterized by progressive loss of limb nerves conduction properties but the pathophysiology of respiratory muscle impairment is unfully understood.
Methods: 10 patients with genetically proven (demyelinating) HMSN type I A (4 men, 6 women; 52±13 years) and 10 healthy controls matched for age and gender underwent spirometry and ultrasound evaluation of diaphragm during voluntary sniff (VS) and diaphragm thickness (DT) at total lung capacity. Cortical (COMS) and cervical (CEMS) magnetic stimulation of the phrenic nerves with recording of the diaphragm motor evoked (dMEP) and compound muscle action potential (dCMAP) from the lower costal margin was performed in 6 patients along with Pdi recordings using balloon catheters.
Results: Mean forced vital capacity was significantly reduced in HMSN type I A patients compared to controls (by 23%, p<0.05). Diaphragm thickening ratio was significantly lower compared to controls (by 20%, p<0.05). Following COMS and CEMS of the phrenic nerves, CMAP latencies were prolonged in CMT patients (by 35% and 100%, p<0.05). There was a trend towards reduced Twitch Pdi following CEMS in HMSN type IA patients compared to controls (by 29%, p=0.09.).
Conclusions: There is diaphragm involvement in patients with HMSN type IA, it is neuropathic in nature.
Footnotes
Cite this article as: ERJ Open Research 2019; 5 : Suppl. 3, P31.
This is an ERS Sleep and Breathing Conference abstract. No full-text version is available. Further material to accompany this conference is available at www.ers-education.org (ERS member access only).
- Copyright ©the authors 2019