Evaluation of quality of life and sleep of individuals with Steinert's disease

Avaliação de qualidade de vida e sono de indivíduos com distrofia miotônica de Steinert

THESES

Evaluation of quality of life and sleep of individuals with Steinert's disease (Abstract)^*. Thesis. Salvador, 2010

Maira Katarine Franco da Mota^**

The Steinert's disease (SD) is the most common form of muscular dystrophy with onset of symptoms in adulthood. The disease is an autosomal-dominant variable penetrance. This mutation leads to a multisystem disease with the presence of diabetes mellitus, hypogonadism, cataracts, cardiac and nervous system. Rohrer described hypersomnia, and more recently there are reports of central apneas, obstructive and oxyhemoglobin desaturation during sleep. The study aimed to determine the profile of sleep and quality of life in patients with SD and compare them with normal controls. We studied 18 patients admitted with SD in Neuromuscular Diseases Clinic of Federal University of Bahia, Brazil, and 20 controls. The participants completed the WHOQOL-100 for assessing quality of life, signed a consent form and received a sleep diary to be completed for thirty days. After one month, the scales investigated responded snoring and Stanford Sleepiness Scale and Epworth daytime sleepiness, and underwent polysomnography investigation and the Test of Multiple Sleep Latency (TMSL). There was a higher prevalence of men in both groups. SD in the group with the extremes of age were 21 to 55 years, since the extremes in the control group were 21 and 64 years. In patients with SD were observed lower sleep efficiency, increased time awake after sleep onset, greater number of arousals and increased arousal index. The frequency and obstructive apnea index and hypopnea were higher in patients with SD. The minimum saturation of oxyhemoglobin during sleep was lower in patients with SD. Among the volunteers who underwent the TMSL was observed in the group of individuals with SD there is a higher percentage of individuals who initiated some stages of the sleep cycle. It was also observed in the group of individuals with SD is an inverse correlation between the mean latencies in the TMSL with apnea / hypopnea. Individuals with SD showed higher degree of daytime sleepiness in both scales. We also observed that the mean score on the Epworth Sleepiness Scale in the group of patients with SD was higher compared with the control group. When evaluating each of the facets of the WHOQOL-100 is observed in the group of patients with SD most medians tended to affect results in lower quality of life. Thus, we observed that patients with SD should be investigated routinely with polysomnographic studies, TMSL, use of scales for the assessment of daytime sleepiness and quality of life in order to provide an accurate profile of the clinical conditions and their repercussions, which can guide the adoption of measures to improve the welfare and long-term prognosis.

Key words: myotonic dystrophy, Steinert, apnea, sleep, polysomnography, quality of life.

*

Avaliação de qualidade de vida e sono de indivíduos com distrofia miotônica de Steinert (Resumo). Tese de Doutorado. Universidade Federal da Bahia (UFBA) (Área de concentração: Neurociências). Orientadora: Rita C. Lucena.

Publication Dates

• Publication in this collection
  20 May 2011
• Date of issue
  2011