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Chapter 30 - Genetic disorders and sleepiness

from Section 3 - Medical, Psychiatric and Neurological Causes Of Sleepiness

Published online by Cambridge University Press:  04 February 2011

By
Sona Nevsimalova
Edited by
Michael J. Thorpy  and
Michel Billiard
Michael J. Thorpy
Affiliation:
Sleep-Wake Disorders Center, Montefiore Medical Center, Bronx, NY, USA
Michel Billiard
Affiliation:
Guide Chauliac Hospital, Montpellier, France
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Summary

This chapter reviews the type and prevalence of sleep problems including daytime sleepiness in a range of commonly presenting genetic syndromes and diseases. It covers the chromosomal abnormalities and genetic programming malformations of the nervous system. The chapter discusses the inherited metabolic disorders and heredodegenerative diseases. It describes the neurodevelopmental syndromes with genetic compound, and reviews the genetically based neuromuscular diseases. Excessive daytime sleepiness (EDS) is the most common sleep-related symptom in the Prader-Willi syndrome. Smith-Magenis syndrome is a severe neurodevelopmental disorder characterized by mental retardation with distinctive behavioral characteristics, dysmorphic features and an abnormal circadian pattern of melatonin ascribed to an intersticial deletion of chromosome 17. Neuromuscular diseases include a wide spectrum of motor unit diseases starting with the affection of motor neuron in the brainstem and spinal cord, continuing through myasthenic syndromes, muscle dystrophies and congenital myopathies, myotonic syndromes and ending with hereditary motor and sensory polyneuropathies (HMSN).

Keywords

alertnessbody clockcircadian rhythmssuprachiasmatic nucleitime-zone transitionssleepjet lagfatigue
Type
Chapter
Information
Sleepiness
Causes, Consequences and Treatment
 , pp. 335 - 350
Publisher: Cambridge University Press
Print publication year: 2011

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