Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease

Bellofatto, Marta; Bertini, Alessandro; Tramacere, Irene; Manganelli, Fiore; Fabrizi, Gian Maria; Schenone, Angelo; Santoro, Lucio; Cavallaro, Tiziana; Grandis, Marina; Previtali, Stefano C.; Falzone, Yuri Matteo; Allegri, Isabella; Padua, Luca; Pazzaglia, Costanza; Calabrese, Daniela; Saveri, Paola; Quattrone, Aldo; Valentino, Paola; Tozza, Stefano; Gentile, Luca; Russo, Massimo; Mazzeo, Anna Teresa; Vita, Giuseppe; Piacentini, Sylvie; Pisciotta, Chiara; Pareyson, Davide

doi:10.1111/ene.15643

Cited by 6 publications

(6 citation statements)

References 29 publications

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“…These findings suggest that sleep abnormalities are partly related to the CMT disease itself, particularly because of pain and subjective sensory abnormalities, partly to mood disorders and fatigue, which are also frequent in CMT and linked to the condition of chronic disease as previously shown by us [ 16 , 17 ] and others [ 4 , 5 , 7 , 26 ], and likely also by the occurrence of specific sleep disorders in the CMT population as reported in previous studies [ 4 , 5 , 7 , 26 ].…”

Section: Discussionsupporting

confidence: 68%

Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

et al. 2023

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Background Sleep abnormalities have been reported in Charcot–Marie–Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients’ series. Methods Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls. ESS score > 10 indicated abnormal daytime somnolence, PSQI score > 5 bad sleep quality. We analyzed correlation with disease severity and characteristics, Hospital Anxiety and Depression Scale (HADS), Modified Fatigue Impact Scale (MFIS), Body Mass Index, drug use. Results ESS and PSQI questionnaires were filled by 257 and 253 CMT patients, respectively, and 58 controls. Median PSQI score was higher in CMT patients than controls (6 vs 4, p = 0.006), with no difference for ESS score. Abnormal somnolence and poor sleep quality occurred in 23% and 56% of patients; such patients had more frequently anxiety/depression, abnormal fatigue, and positive sensory symptoms than those with normal ESS/PSQI. Moreover, patients with PSQI score > 5 had more severe disease (median CMT Examination Score, CMTES, 8 vs 6, p = 0.006) and more frequent use of anxiolytic/antidepressant drugs (29% vs 7%, p < 0.001). Conclusions Bad sleep quality and daytime sleepiness are frequent in CMT and correlated with anxiety, depression and fatigue, confirming that different components affect sleep. Sleep disorders, such as sleep apnea and restless leg syndrome, not specifically investigated here, are other factors known to impact on sleep quality and somnolence. CMT patients’ management must include sleep behavior assessment and evaluation of its correlated factors, including general distress and fatigue.

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Section: Discussionsupporting

confidence: 68%

Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

et al. 2023

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“…Patients with PSQI >5 also exhibited higher CMTES and greater use of antidepressant and anxiolytic medications ( 29 ). The same authors also assessed the prevalence of fatigue in a large series of CMT patients recruited through the Italian CMT Registry ( 30 ). Thirty-six percent of CMT patients had abnormal fatigue based on the Modified Fatigue Impact Scale (MFIS), and patients with fatigue exhibited higher CMTES, an increased need for foot orthoses and walking support, greater hand disability, and positive sensory symptoms.…”

Section: Review Of the Literature And Discussionmentioning

confidence: 99%

“…Thirty-six percent of CMT patients had abnormal fatigue based on the Modified Fatigue Impact Scale (MFIS), and patients with fatigue exhibited higher CMTES, an increased need for foot orthoses and walking support, greater hand disability, and positive sensory symptoms. Patients with abnormal fatigue also showed a higher frequency of anxiety/depression, daytime sleepiness, obesity, and use of antidepressants/anxiolytics or anti-inflammatory/analgesic medications ( 30 ).…”

Section: Review Of the Literature And Discussionmentioning

confidence: 99%

Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature

Massucco,

Schenone,

Faedo

et al. 2024

Front. Neurol.

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Sleep-disordered breathing has been reported in Charcot–Marie–Tooth disease (CMT) type 1A in association with diaphragmatic weakness and sleep apnea syndrome, mainly of the obstructive type (OSA). Improvement has been observed not only in sleep quality but also in neuropathy symptoms in CMT1A patients with OSA following the initiation of continuous positive airway pressure. We report the cases of two siblings affected by CMT1A associated with hemidiaphragm relaxatio necessitating nocturnal non-invasive ventilation (NIV). Two twins, now 42 years old, with a family history of CMT1A, received a genetic diagnosis of CMT1A at the age of 16. Over the years, they developed a slowly worsening gait disorder and a decline in fine motor hand movements, currently presenting with moderate disability (CMTES:13). At the age of 40, they both started complaining of daytime sleepiness, orthopnea, and exertional dyspnea. They received a diagnosis of relaxatio of the right hemidiaphragm associated with impairment of nocturnal ventilation and they both have benefited from nocturnal NIV. Disorders of breathing during sleep may be underestimated in CMT1A since routine investigations of sleep quality are rarely performed. Our two clinical cases and a literature review suggest the importance of inquiring about symptoms of excessive daytime sleepiness and respiratory disturbances in individuals with CMT1A, even in the absence of severe neuropathy. In the presence of compatible symptoms, a pneumological assessment, along with an overnight polysomnogram and lung function tests, should be performed. Recognizing sleep-related symptoms is essential for providing accurate treatment and improving the quality of life for patients with CMT1A.

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“…We administered a series of online questionnaires to patients registered in the National CMT Registry 2 (www.registronmd.it) as previously reported. [12][13][14] Recruitment was conducted before the COVID-19 pandemic and lasted 3 years (2015-2017).…”

Section: Methodsmentioning

confidence: 99%

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease

Bertini,

Manganelli,

Fabrizi

et al. 2023

J Neurol Neurosurg Psychiatry

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BackgroundShoe inserts, orthopaedic shoes, ankle-foot orthoses (AFOs) are important devices in Charcot-Marie-Tooth disease (CMT) management, but data about use, benefits and tolerance are scanty.MethodsWe administered to Italian CMT Registry patients an online ad hoc questionnaire investigating use, complications and perceived benefit/tolerability/emotional distress of shoe inserts, orthopaedic shoes, AFOs and other orthoses/aids. Patients were also asked to fill in the Quebec User Evaluation of Satisfaction with assistive Technology questionnaire, rating satisfaction with currently used AFO and related services.ResultsWe analysed answers from 266 CMT patients. Seventy per cent of subjects were prescribed lower limb orthoses, but 19% did not used them. Overall, 39% of subjects wore shoe inserts, 18% orthopaedic shoes and 23% AFOs. Frequency of abandonment was high: 24% for shoe inserts, 28% for orthopaedic shoes and 31% for AFOs. Complications were reported by 59% of patients and were more frequently related to AFOs (69%). AFO users experienced greater emotional distress and reduced tolerability as compared with shoe inserts (p<0.001) and orthopaedic shoes (p=0.003 and p=0.045, respectively). Disease severity, degree of foot weakness, customisation and timing for customisation were determinant factors in AFOs’ tolerability. Quality of professional and follow-up services were perceived issues.ConclusionsThe majority of CMT patients is prescribed shoe inserts, orthopaedic shoes and/or AFOs. Although perceived benefits and tolerability are rather good, there is a high rate of complications, potentially inappropriate prescriptions and considerable emotional distress, which reduce the use of AFOs. A rational, patient-oriented and multidisciplinary approach to orthoses prescription must be encouraged.

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Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease

Cited by 6 publications

References 29 publications

Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease

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