Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2

Abstract

The aim of this study was to evaluate the pulmonary condition in a large family with Charcot-Marie-Tooth disease type 2 (CMT2). Eighteen participants diagnosed with CMT2 and 20 healthy individuals were evaluated by spirometry and maximal expiratory and maximal inspiratory pressures (MEP and MIP, respectively). Clinical disability was measured with CMT neuropathy score (CMTNS; range 0-36). One control group (CG) comprising 20 individuals, matched for age, sex and body mass index, were used for comparison. Eight patients were female (44.5%) and 10 patients were male (55.5%); mean age was 31.8 years (range 11-79) and CMTNS range was 6-26. Differences between CMT2 and CG in the spirometry and respiratory muscle strength were statistically significant for all dimensions. There were significant correlations between CMTNS and MIP (Pearson = -0.581) and MEP (Pearson = -0.5090). The results of this study show that patients with CMT, in spite of not showing clinical signs of advanced respiratory impairment, may present subclinical respiratory changes. The respiratory comprise in the CMT disease can be silent and insidious without presenting characteristic clinical signals.

Differences in respiratory function, depressive symptoms and quality of life between patients with hereditary motor and sensory neuropathy and myotonic dystrophy undergoing maintenance rehabilitation

“…While respiratory impairments have been reported for both studied diseases [7][8][9][10][11][12], our observational study showed that lung function and respiratory muscle strength were on average much better in the HMSN than in the MD group. Using 80% of the predicted value as the lower limit of normal for VC, FVC, and FEV1 [31], mean values were within the normal range in HMSN patients, whereas in MD patients they approached or fell below this threshold.…”

“…In HMSN, the nerve-related changes affecting the innervated respiratory muscles, thoracic cage abnormalities, and structural spinal deformities can cause respiratory impairment [7,8]. Studies on HMSN patients consistently report reduced respiratory muscle strength [9][10][11][12], but spirometry findings are inconsistent [7,9,10]. Respiratory impairment in MD is attributed to muscle weakness, myotonic changes, phrenic nerve involvement, and central mechanisms [5,13,14], with consistent evidence of abnormalities in respiratory function tests, including parameters like FVC and VC [13], and reduced respiratory muscle strength [13,14].…”

Five Cases of Charcot–Marie–Tooth Disease With Positive COVID-19 Infection Reported Using Cerner Real-World Data™

“…The typical clinical presentation is distal muscle wasting and weakness, sensory loss of lower extremities, and foot deformities secondary to peripheral neuropathy. 1…”