Pulmonary function in patients with hereditary motor and sensory neuropathy: A comparison of patients with and without spinal deformity

Horáček, Ondřej; Chlumský, J; Mazanec, Radim; Kolář, Pavel; Andel, Ross; Kobesová, Alena

doi:10.1016/j.nmd.2012.05.008

Cited by 4 publications

(8 citation statements)

References 34 publications

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“…Previous studies have described excessive diaphragmatic dysfunction and other respiratory muscles in the CMT patients including severe cases of respiratory failure as a result of diaphragmatic paresis [13,14]. …”

Section: Introductionmentioning

confidence: 99%

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

Garcez

Neves²,

Melo³

et al. 2015

Eur Neurol

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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.

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Section: Introductionmentioning

confidence: 99%

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

Garcez

Neves²,

Melo³

et al. 2015

Eur Neurol

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“…A limited number of studies conducted in larger cohorts suggest that respiratory muscle weakness (as reflected by vital capacity or maximum inspiratory pressure) may relate to overall neurological handicap . Furthermore, lung restriction may be worse in patients with concomitant spine deformities . However, non‐volitional tests such as twitch transdiaphragmatic pressure (twPdi) following magnetic stimulation of the phrenic nerves have only been applied in two severely affected patients with genetically unspecified CMT …”

Section: Introductionmentioning

confidence: 99%

“…Data on the potential involvement of expiratory muscles in CMT are limited and inconclusive, and again, only volitional tests have been applied in previous studies . Magnetic stimulation of the abdominal muscles along with invasive recording of the twitch gastric pressure (twPgas) overcomes the difficulties inherent in volitional tests of expiratory muscle strength, but this has never been studied in CMT patients …”

Section: Introductionmentioning

confidence: 99%

“…17,18 Furthermore, lung restriction may be worse in patients with concomitant spine deformities. 19 However, non-volitional tests such as twitch transdiaphragmatic pressure (twPdi) following magnetic stimulation of the phrenic nerves have only been applied in two severely affected patients with genetically unspecified CMT. 12 Thus, morphological and electrophysiological evidence of diaphragm dysfunction is still limited, especially in ambulatory patients without clinically overt respiratory muscle weakness (ie, with no dyspnea on exertion and normal blood gases).…”

Section: Introductionmentioning

confidence: 99%

“…24,25 Data on the potential involvement of expiratory muscles in CMT are limited and inconclusive, and again, only volitional tests have been applied in previous studies. 18,19 Magnetic stimulation of the abdominal muscles along with invasive recording of the twitch gastric pressure (twPgas) overcomes the difficulties inherent in volitional tests of expiratory muscle strength, 26 but this has never been studied in CMT patients. 26,27 This case-control study tested the hypothesis that diaphragm dysfunction is present in ambulatory patients with CMT1A even if symptoms of respiratory muscle weakness are not reported, and determined whether objective diaphragm dysfunction can be attributed to measurable motor neuropathy of the phrenic nerves.…”

Section: Introductionmentioning

confidence: 99%

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Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot‐Marie‐Tooth disease 1A

Spießhoefer

Henke

Kabitz

et al. 2019

J Peripheral Nervous Sys

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Diaphragm weakness in Charcot‐Marie‐Tooth disease 1A (CMT1A) is usually associated with severe disease manifestation. This study comprehensively investigated phrenic nerve conductivity, inspiratory and expiratory muscle function in ambulatory CMT1A patients. Nineteen adults with CMT1A (13 females, 47 ± 12 years) underwent spiromanometry, diaphragm ultrasound, and magnetic stimulation of the phrenic nerves and the lower thoracic nerve roots, with recording of diaphragm compound muscle action potentials (dCMAP, n = 15), transdiaphragmatic and gastric pressures (twPdi and twPgas, n = 12). Diaphragm motor evoked potentials (dMEP, n = 15) were recorded following cortical magnetic stimulation. Patients had not been selected for respiratory complaints. Disease severity was assessed using the CMT Neuropathy Scale version 2 (CMT‐NSv2). Healthy control subjects were matched for age, sex, and body mass index. The following parameters were significantly lower in CMT1A patients than in controls (all P < .05): forced vital capacity (91 ± 16 vs 110 ± 15% predicted), maximum inspiratory pressure (68 ± 22 vs 88 ± 29 cmH2O), maximum expiratory pressure (91 ± 23 vs 123 ± 24 cmH2O), and peak cough flow (377 ± 135 vs 492 ± 130 L/min). In CMT1A patients, dMEP and dCMAP were delayed. Patients vs controls showed lower diaphragm excursion (5 ± 2 vs 8 ± 2 cm), diaphragm thickening ratio (DTR, 1.9 [1.6‐2.2] vs 2.5 [2.1‐3.1]), and twPdi (8 ± 6 vs 19 ± 7 cmH2O; all P < .05). DTR inversely correlated with the CMT‐NSv2 score (r = −.59, P = .02). There was no group difference in twPgas following abdominal muscle stimulation. Ambulatory CMT1A patients may show phrenic nerve involvement and reduced respiratory muscle strength. Respiratory muscle weakness can be attributed to diaphragm dysfunction alone. It relates to neurological impairment and likely reflects a disease continuum.

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Neuromuskuläre Erkrankungen

Klein

Fischer

2023

Transition Bei Neurologischen Erkrankungen

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Pulmonary function in patients with hereditary motor and sensory neuropathy: A comparison of patients with and without spinal deformity

Cited by 4 publications

References 34 publications

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

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

Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot‐Marie‐Tooth disease 1A

Neuromuskuläre Erkrankungen

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