Sleep Pattern in Charcot-Marie-Tooth Disease Type 2: Report of Family Case Series

Souza, Cynthia Coelho; Hirotsu, Camila; Neves, Eduardo Almeida; Santos, Lidiane Carine Lima; Garcez, Catarina Andrade; Nunes, Paula Santos; Antunes, Adriano

doi:10.5664/jcsm.4526

Cited by 6 publications

(10 citation statements)

References 34 publications

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“…In the previous study conducted by our group, individuals with CMT type 2 showed similar results, with increased WASO, indicative of sleep fragmentation, and changes in sleep architecture 9 .…”

Section: Discussionsupporting

confidence: 74%

“…Besides, we demonstrated that patients with CMT type 2 present higher fragmentation of sleep 9 , but there is no evidence so far about the relationship of these modifications with pain perception and nocturnal cramps.…”

Section: Introductionmentioning

confidence: 66%

“…We did not observe significant differences between the groups for the subjective sleep quality ( Table 2 ). In a previous study conducted by our group, it was observed that 75% of the CMT2 patients had poor subjective sleep quality, which was mainly caused by the difficulty to initiate sleep, and that these changes were dependent on the severity of the 9 . In this study we also observed that a more severe manifestation of the disease led to a worse subjective sleep quality of sleep, however, the proportion of individuals with a more severe manifestation of the disease is lower, which may explain the absence of difference between groups for the subjective quality of sleep.…”

Section: Discussionmentioning

confidence: 84%

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The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study

Souza¹,

Vallim²,

Neves³

et al. 2022

Sleep Sci

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Introduction Charcot-Marie-Tooth disease is an inherited neuropathy that presents two main forms - type 1 and type 2 -, differentiated by the speed of the nervous conduction. Our goal was to assess sleep in Charcot-Marie-Tooth disease and its relationship with pain perception and nocturnal cramps. Material and Methods This was a case-control study. The case group was composed of 10 volunteers diagnosed with the type 1 and 23 with the type 2. The control group was composed of 22 individuals from the same family matched by age and gender. Volunteers underwent clinical screening to assess the presence of nocturnal cramps and filled the brief pain inventory, the Chalder fatigue scale, the Epworth sleepiness scale, and the Pittsburgh sleep quality index. Sleep was evaluated by actigraphy. Results Type 2 patients presented a more severe perception of pain and fatigue, more time spend awake after sleep onset, and had lower sleep efficiency. The individuals who reported nocturnal cramps also had worse perception of pain, reduced sleep latency, and increased sleep fragmentation. Conclusion The Charcot-Marie-Tooth type 2 was related with worse sleep quality, perception of pain, and fatigue and these parameters were negatively related.

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Section: Discussionsupporting

confidence: 74%

Section: Introductionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 84%

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The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study

Souza¹,

Vallim²,

Neves³

et al. 2022

Sleep Sci

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“… 56 A number of small reports describe symptoms of dyspnea, dysphagia, and obstructive sleep apnea, laryngoscopic evaluation of the upper airway, as well as treatment with continuous or bi-level positive airway pressure. 55 , 57 – 62 While there is not enough evidence to make recommendations regarding clinical screening for sleep and respiratory disorders, longitudinal care should optimally address these potential comorbidities.…”

Section: Clinical Surveillance Of Comorbidities Complications and Mmentioning

confidence: 99%

Management of Charcot–Marie–Tooth disease: improving long-term care with a multidisciplinary approach

McCorquodale¹,

Pucillo²,

Johnson³

2016

JMDH

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Charcot–Marie–Tooth (CMT) disease is the most common inherited neuropathy and one of the most common inherited diseases in humans. The diagnosis of CMT is traditionally made by the neurologic specialist, yet the optimal management of CMT patients includes genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources. Rapidly developing genetic discoveries and novel gene discovery techniques continue to add a growing number of genetic subtypes of CMT. The first large clinical natural history and therapeutic trials have added to our knowledge of each CMT subtype and revealed how CMT impacts patient quality of life. In this review, we discuss several important trends in CMT research factors that will require a collaborative multidisciplinary approach. These include the development of large multicenter patient registries, standardized clinical instruments to assess disease progression and disability, and increasing recognition and use of patient-reported outcome measures. These developments will continue to guide strategies in long-term multidisciplinary efforts to maintain quality of life and preserve functionality in CMT patients.

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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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Sleep Pattern in Charcot-Marie-Tooth Disease Type 2: Report of Family Case Series

Abstract: Taken together, these data show that CMT2 disease is characterized by important changes in sleep architecture, probably due to sleep fragmentation. Although these alterations may worsen with disease severity, it seems that they are not related to sleep breathing or movement disorders.

Cited by 6 publications

References 34 publications

The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study

The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study

Management of Charcot–Marie–Tooth disease: improving long-term care with a multidisciplinary approach

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

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Sleep Pattern in Charcot-Marie-Tooth Disease Type 2: Report of Family Case Series

Abstract: Taken together, these data show that CMT2 disease is characterized by important changes in sleep architecture, probably due to sleep fragmentation. Although these alterations may worsen with disease severity, it seems that they are not related to sleep breathing or movement disorders.

Cited by 6 publications

References 34 publications

The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study

The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study

Management of Charcot&ndash;Marie&ndash;Tooth disease: improving long-term care with a multidisciplinary approach

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

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Management of Charcot–Marie–Tooth disease: improving long-term care with a multidisciplinary approach