Electrodiagnostic Evidence of Phrenic Nerve Demyelination in Charcot-Marie-Tooth Disease 1A

Sagliocco, L.; Orlandi, Giovanni; Calabrese, R; Pellegrinetti, Alberto; Baglini, O; Castelli, Francesca; Baldinotti, Fulvia; Sartucci, Ferdinando

doi:10.1097/01.phm.0000087453.94529.0d

Cited by 16 publications

(19 citation statements)

References 22 publications

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“…Eichacker et al [26] evaluated a cohort with 10 patients committed by CMT1, with no respiratory complaints, but with muscular weakness present in most of the individuals studied. Sagliocco et al [27] observed reduced MEP in 100% of the individuals studied in the groups CMT1 and CMT2. It is worth pointing out that this study evaluated only individuals with CMT2 and from the same family.…”

Section: Discussionmentioning

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: Discussionmentioning

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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“…One large study included 200 patients with CMT1A, of whom 40 reported respiratory symptoms and 15 showed possible respiratory muscle weakness, as roughly estimated by FVC <80% of predicted and maximal inspiratory pressure <40 cmH 2 O . Another study including 11 patients electrophysiologically demonstrated phrenic nerve involvement, even in the absence of respiratory complaints or abnormal FVC and mouth occlusion pressures . A third study documented altered phrenic nerve morphology on ultrasound and prolonged latencies on phrenic NCS in 16 patients with CMT1A; reduction of PImax and PEmax was present in 5 and 12 patients, respectively .…”

Section: Discussionmentioning

confidence: 99%

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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“…Many patients with CMT1A rarely have clinical respiratory symptoms, despite severe nerve demyelination and some diaphragmatic dysfunction. Sagliocco et al investigated the correlation between electrophysiologic findings and clinical respiratory signs, or spirometric abnormalities in patients with CMT1A, and showed that phrenic nerve conduction velocities were significantly slower (p < 0.0001; median conduction time, 18.6 ms; 95th percentile, 31.97 ms) than that recorded in the control group of healthy subjects (median, 6.05 ms; 95th percentile, 8.82 ms) but none of them had clinical or laboratory evidence of diaphragmatic weakness ( Sagliocco et al, 2003 ) . These findings may be compatible with the other observations that there is no correlation in CMT between strength and nerve conduction velocity in the limbs, unless severe weakness is present ( Dyck et al, 1993 ) .…”

Section: Hereditary Peripheral Neuropathiesmentioning

confidence: 92%

Respiratory muscle weakness in peripheral neuropathies

Burakgazi

Höke

2010

J Peripheral Nervous Sys

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Common peripheral neuropathies do not usually cause diaphragmatic weakness and subsequent respiratory compromise. However, respiratory involvement is relatively common in Guillain-Barré syndrome (GBS). Experience in GBS has led to a standardized approach to manage respiratory problems in peripheral neuropathies. Diaphragmatic weakness is not common in chronic inflammatory demyelinating polyneuropathy and extremely rare in multifocal motor neuropathy. The linkage has been described between certain subtypes of Charcot-Marie-Tooth (CMT) disease such as CMT2C and CMT4B1 and diaphragmatic weakness. A correlation usually has not been found between electrophysiologic findings and clinical respiratory signs or spirometric abnormalities in peripheral neuropathies except in amplitudes of evoked phrenic nerve responses. Careful and frequent assessment of respiratory function by a qualified team of healthcare professionals and physicians is essential. Criteria established for mechanical ventilation in GBS cases may be applied to other peripheral neuropathies with respiratory compromise as necessary.

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Electrodiagnostic Evidence of Phrenic Nerve Demyelination in Charcot-Marie-Tooth Disease 1A

Abstract: Our study confirms a dramatic phrenic nerve involvement in absence of clinical and laboratory evidence of diaphragmatic weakness; further studies and an adequate follow-up are necessary to discover whether the disease progress might encompass respiratory dysfunction at later stages.

Cited by 16 publications

References 22 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

Respiratory muscle weakness in peripheral neuropathies

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