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Sleep apnea in Machado-Joseph disease: a clinical and polysomnographic evaluation

Felipe Augusto Folha Santos1, Luciane Bizari C de Carvalho2, Lucila Fernandes do Prado2

  • 1Ataxia Unit, Department of Neurology, Federal University of São Paulo, São Paulo, SP, Brazil.

Sleep Medicine
|June 1, 2018
PubMed
Abstract

Insights

Machado-Joseph disease (MJD) patients frequently experience obstructive sleep apnea (OSA). This common sleep disorder in MJD is not linked to disease severity or genetic factors.

Area of Science:

  • Neurology
  • Sleep Medicine
  • Genetics

Background:

  • Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is a common autosomal dominant ataxia.
  • Sleep disorders are recognized as prevalent non-motor symptoms in MJD, significantly impacting patient quality of life.
  • Limited research has specifically investigated the prevalence and characteristics of sleep apnea in MJD patients.

Purpose of the Study:

  • To determine the prevalence of sleep apnea in patients diagnosed with Machado-Joseph disease.
  • To analyze the characteristics of sleep apnea in MJD patients using polysomnography.
  • To explore potential correlations between sleep apnea and clinical variables in MJD.

Main Methods:

  • Polysomnography was utilized to assess sleep apnea in a cohort of 47 MJD patients.
  • Clinical data including age, symptom onset, disease duration, BMI, ataxia severity, and CAG repeat length were collected.
  • Polysomnographic findings were compared against these clinical variables.

Main Results:

  • Obstructive sleep apnea (OSAS) was identified in 34% of MJD patients.
  • Excessive daytime somnolence was present in 42.5% of the study cohort.
  • No significant correlations were found between sleep apnea, ataxia severity, CAG repeat length, or other clinical factors.

Conclusions:

  • Machado-Joseph disease patients exhibit a high incidence of obstructive sleep apnea.
  • The presence and severity of sleep apnea in MJD are not associated with ataxia severity or genetic factors like CAG repeat length.
  • Sleep apnea represents a significant, yet often overlooked, comorbidity in Machado-Joseph disease.
Keywords:
MJDMachado-Joseph diseaseSCA3Sleep apneaSleep disordersSpinocerebellar ataxia type 3

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