CMT2C with vocal cord paresis associated with short stature and mutations in the
            <i>TRPV4</i>
            gene

Chen, D.-H.; Sul, Youngmee; Weiss, MaryAnn; Hıllel, Allen D.; Lipe, Hillary; Wolff, John; Matsushita, Mark; Raskind, Wendy H.; Bird, Thomas D.

doi:10.1212/wnl.0b013e3181ffe4bb

Cited by 71 publications

(77 citation statements)

References 26 publications

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“…It follows an evolving course always from distal to proximal segments and can comprise muscles that are involved in the breathing. Reports on precocious respiratory failure have been observed, especially in cases of CMT2C due to the involvement of the phrenic nerve [20,21]. In other forms of CMT, respiratory insufficiency occurs only sporadically and in later phases of the disease.…”

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.

show abstract

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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show abstract

“…gov/clinvar/variation/4999/). As noted, it has once previously also been found in a family with presumed combined phenotypes [Chen et al, 2010]. R315W has not been reported in individuals with only skeletal dysplasia.…”

Section: Discussionmentioning

confidence: 71%

“…The first presumed instance of the combined skeletal and neurological phenotypes of TRPV4 pathogenic variants was described by Chen et al [2010]. While the neurological abnormalities were reasonably well delineated, unfortunately the skeletal features were not.…”

Section: Discussionmentioning

confidence: 99%

“…Previously reported patients with this pathogenic variant having both skeletal and neurological phenotypes also seem to have experienced greater symptoms related to their neuromuscular disorder, while their skeletal presentation apparently was limited to short stature [Chen et al, 2010]. Skeletal assessments and radiographic evaluations certainly were not performed on all individuals with TRPV4 -related neuromuscular disorders.…”

Section: Discussionmentioning

confidence: 99%

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Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

et al. 2018

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TRPV4, a nonselective calcium permeable ion channel, is expressed broadly in many organs including bone and neurons. Pathogenic variants in TRPV4 are known to cause both a spectrum of skeletal dysplasias and neuropathies. Recent publications have documented a few patients who have a combined phenotype of skeletal dysplasia and neuropathy secondary to TRPV4 pathogenic variants. We present an additional patient who has an overlapping neuromuscular and skeletal phenotype secondary to a TRPV4 pathogenic variant. The patient has spondylometaphyseal dysplasia-Kozlowski type and Charcot-Marie-Tooth disease type 2C. This and prior reports illustrate that TRPV4-related skeletal dysplasias and TRPV4-related neuropathies are not fully distinct disorders secondary to unique sets of pathogenic variants as originally postulated, but rather are 2 phenotypes on the same spectrum that may or may not overlap. We suggest that evaluation for patients presenting with any TRPV4-related disorder include assessment for both skeletal and neurological findings.

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“…1 In spite of bulbar involvement, vocal cord paralysis (VCP) is an uncommon presentation of CMS, 2 and is most often seen in peripheral neuropathies such as TRPV4 mutations. 3 We report 2 cases of CMS with 2 novel mutations in which VCP was a major sign.…”

mentioning

confidence: 97%

Two cases of congenital myasthenic syndrome with vocal cord paralysis

et al. 2015

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CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

Abstract: Background: Recently, mutations in the transient receptor potential cation channel, subfamily

Cited by 71 publications

References 26 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

Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Two cases of congenital myasthenic syndrome with vocal cord paralysis

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