Sleep disorders in Charcot-Marie-Tooth disease type 1

Boentert, Matthias; Knop, Katharina; Schuhmacher, Christine; Gess, Burkhard; Okegwo, Angelika; Young, Peter

doi:10.1136/jnnp-2013-305296

Cited by 50 publications

(48 citation statements)

References 35 publications

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“…A significant portion of patients had mixed apnea. It was suggested that the particular tendency for OSA in those patients may be related to spread of the neuropathy to the pharyngeal muscles (90). …”

Section: Congenital Neuropathiesmentioning

confidence: 99%

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist

Gadoth

Oksenberg

2014

Front. Neurol.

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Although sleep abnormalities in general and sleep-related breathing disorders (SBD) in particular are quite common in healthy children; their presence is notably under-recognized. Impaired sleep is a frequent problem in subjects with inborn errors of metabolism as well as in a variety of genetic disorders; however, they are commonly either missed or underestimated. Moreover, the complex clinical presentation and the frequently life-threatening symptoms are so overwhelming that sleep and its quality may be easily dismissed. Even centers, which specialize in rare genetic-metabolic disorders, are expected to see only few patients with a particular syndrome, a fact that significantly contributes to the under-diagnosis and treatment of impaired sleep in this particular population. Many of those patients suffer from reduced life quality associated with a variable degree of cognitive impairment, which may be worsened by poor sleep and abnormal ventilation during sleep, abnormalities which can be alleviated by proper treatment. Even when such problems are detected, there is a paucity of publications on sleep and breathing characteristics of such patients that the treating physician can refer to. In the present paper, we provide an overview of sleep and breathing characteristics in a number of rare genetic–metabolic disorders with the hope that it will serve as a reminder for the medical professional to look for possible impaired sleep and SBD in their patients and when present to apply the appropriate evaluation and treatment options.

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Section: Congenital Neuropathiesmentioning

confidence: 99%

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist

Gadoth

Oksenberg

2014

Front. Neurol.

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“…It is unknown to what extent chronic intermittent hypoxemia in OSAS causes damage to the motor and sensory peripheral nerve, but muscle action potential and sensory nerve action potential amplitudes are significantly reduced in the nerves outside UA in patients with OSAS suggesting that axonal damage exists in patients with OSAS to a greater extent than previously thought [24]. On the other hand, association between OSAS and sensory neuropathy, and nerve damage outside the UA [18,[25][26][27], type 2 or type 1A diabetic neuropathy, and axonal subtypes of Charcot-Marie-Tooth disease [28][29][30][31] has been also demonstrated. Of particular interest is the epidemiological association between OSAS and anterior ischemic optic neuropathy [32] although a concluding rapport cannot be established [33].…”

Section: The Neurological Theory Of Osas and The Upper Airways Remodementioning

confidence: 81%

Nerve and Muscle Changes in the Upper Airways of Subjects with Obstructive Sleep Apnea: Structural Basis for the Neurogenic Theory

Cobo¹,

Macías²,

Alvarez³

et al. 2017

Sleep Apnea - Recent Updates

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Obstructive sleep apnea syndrome (OSAS) is a widely diffused disease associated with specific genetics, age, gender, craniofacial and upper airways anatomy, obesity, and endocrine conditions, but not with ethnicity profiles. The so-called neurogenic neurogenic theory of OSAS postulates that the collapse of the upper airways that characterize this disease is due to peripheral nerve degeneration that leads to muscle atrophy and collapse. This review attempts to summarize the structural and functional changes in both the sensory and motor innervation of the walls of the upper air ways in patients suffering from OSAS.

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“…Among the quantitative studies, two referred to themselves as descriptive (Gemignani et al, 1999; Padua et al, 2008a), while the remaining studies employed comparisons among groups (Rubinsztein et al, 1998; Dematteis et al, 2001; Pfeiffer et al, 2001; Teunissen et al, 2003; Vinci et al, 2005; Padua et al, 2006, 2008b, 2008c; Kalkman et al, 2007; Dziewas et al, 2008; Redmond et al, 2008; Hattan et al, 2009; Phillips et al, 2009; Vinci et al, 2009; Boenterd et al, 2010; Calvert et al, 2012; Boentert et al, 2014). …”

Section: Resultsmentioning

confidence: 99%

“…Considering the specific aims of the evaluated studies, it was possible to divide them into two groups, as follows: (a) studies investigating the comorbidity of psychiatric disorders in patients with CMT (Rubinsztein et al, 1998; Gemignani et al, 1999; Dematteis et al, 2001; Pfeiffer et al, 2001; Arnold et al, 2005; Padua et al, 2006, 2008a; Kalkman et al, 2007; Dziewas et al, 2008; Hattan et al, 2009; Phillips et al, 2009; Vinci et al, 2009; Boenterd et al, 2010) and (b) studies evaluating the impact of the CMT symptoms on the quality of life (Teunissen et al, 2003; Arnold et al, 2005; Vinci et al, 2005; Padua et al, 2006, 2008a, 2008b, 2008c; Redmond et al, 2008; Boenterd et al, 2010; Calvert et al, 2012; Boentert et al, 2014), resulting in the current clinical presentation.…”

Section: Resultsmentioning

confidence: 99%

Charcot-Marie-Tooth Disease, Psychiatric Indicators and Quality of Life: A Systematic Review

et al. 2014

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This study is aimed to conduct a systematic literature review regarding the associations between psychiatric symptoms, functional impairments, and quality of life in patients with CMT (Charcot–Marie–Tooth). The PUBMED, PsycInfo, SCIELO, and LILACS electronic databases were used, and the following search terms were employed: CMT, HMSN (hereditary motor and sensory neuropathy), mental disorder, quality of life, psychiatry, psychiatric, and psychological without the use of time-limit filters. According to the adopted inclusion criteria, 20 studies were included and appraised. These studies indicated that patients with CMT exhibited an increased trend toward depressive symptoms compared with the general population. In addition, CMT patients were exposed to a higher risk of reduced quality of life and significant sleep impairment. Considering the comorbidity of CMT with other psychiatric disorders, the heterogeneity of the instruments used to evaluate the psychiatric symptoms compromised the ability to compare the studies examined. Our results indicate a need for a systematic evaluation of these conditions to minimize the impairments and decreased quality of life caused by CMT.

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Sleep disorders in Charcot-Marie-Tooth disease type 1

Abstract: In addition to known risk factors, CMT may predispose to OSA. RLS is highly prevalent not only in axonal subtypes of CMT but also in primarily demyelinating subforms of CMT. PLMS are common in CMT1, but do not significantly impair sleep quality.

Cited by 50 publications

References 35 publications

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist

Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist

Nerve and Muscle Changes in the Upper Airways of Subjects with Obstructive Sleep Apnea: Structural Basis for the Neurogenic Theory

Charcot-Marie-Tooth Disease, Psychiatric Indicators and Quality of Life: A Systematic Review

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