Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study

Autor:	Jean-Louis Pépin, Maurice Dematteis, Michel Jeanmart, Chrystèle Deschaux, Patrick Levy, Annick Labarre-Vila
Rok vydání:	2001
Předmět:	Adult Male congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Pediatrics Adolescent Polysomnography Neurological examination Disease Statistics Nonparametric Body Mass Index Central nervous system disease Sex Factors Sleep Apnea Syndromes Degenerative disease Charcot-Marie-Tooth Disease Gene Duplication medicine Humans Prospective Studies Child Index case Aged Genes Dominant Neurologic Examination medicine.diagnostic_test Electromyography business.industry Age Factors Electromyoneurography General Medicine Middle Aged medicine.disease Pedigree respiratory tract diseases nervous system diseases Female business Body mass index Chromosomes Human Pair 17
Zdroj:	The Lancet. 357:267-272
ISSN:	0140-6736
DOI:	10.1016/s0140-6736(00)03614-x
Popis:	Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous group of hereditary motor and sensory polyneuropathies in which sleep apnoea has rarely been reported and no causal relation shown. We looked for an association between the most common subtype of CMT disease (CMT1A) and sleep apnoea syndrome.Having diagnosed sleep apnoea and CMT in one family member (index case), we prospectively investigated 13 further members not previously suspected of having neuropathy or apnoeas. All had a neurological examination, electroneuromyography, polysomnography, and genetic testing for CMT disease.11 of the 14 family members had the autosomal dominant demyelinating form of CMT disease with PMP22 gene duplication on chromosome 17. Whatever their neurological disability, all 11 individuals had sleep apnoea syndrome with a mean (SD) apnoea-hypopnoea index of 46.6/h (28.5) of sleep (normal value15/h). The remaining three family members were free from neuropathy and sleep apnoea syndrome. Sleep apnoea and neuropathy severity were highly correlated; the compound muscle action potential (CMAP) amplitude of the median nerve was inversely correlated with the apnoea-hypopnoea index (r=-0.69, p=0.029). The severity of neuropathy and sleep apnoea were higher in male CMT individuals and were correlated with age and body mass index. No wake or sleep diaphragmatic dysfunction was shown.We think that sleep apnoea syndrome is related to a pharyngeal neuropathy. Upper airway dysfunction, previously described in the CMT2C subtype, might be a clinical expression of the CMT1A subtype, to which familial susceptibility could predispose.
Databáze:	OpenAIRE
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