Increased prevalence of sleep-disordered breathing in Friedreich ataxia

Neurology. 2013 May 22. [Epub ahead of print]
Increased prevalence of sleep-disordered breathing in Friedreich ataxia.
Corben LA, Ho M, Copland J, Tai G, Delatycki MB.
From the Bruce Lefroy Centre for Genetic Health Research (L.A.C., G.T., M.B.D.), Murdoch Childrens Research Institute, Parkville; Monash Lung and Sleep (M.H., J.C.), Monash Health, Clayton; and Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA.
Eighty-two individuals with FRDA were administered the Epworth Sleepiness Scale on an annual basis for up to 3 years. Individuals were referred for a sleep study if they had an Epworth Sleepiness Scale score >8 or had clinical symptoms suggestive of SDB.
From this cohort, 21 individuals underwent a sleep study and 17 were diagnosed with obstructive sleep apnea syndrome, giving a minimum prevalence of 21%, which is greater than that found in the general population (3%-7%). Moreover, the presence of obstructive sleep apnea was significantly correlated with the duration of disease and clinical severity of FRDA.
It is recommended that individuals with FRDA undergo regular screening for obstructive sleep apnea to identify the need for a sleep study and subsequent treatment if SDB is diagnosed.

Unbeknown to me I had and have sleep apnea. For many years people complained about my loud snoring but I thought it was because of my fatigue caused by Friedreich’s Ataxia. Until it was observed and said that during my snoring I suddenly stop, gasp for air and then start snoring again. I got my GP refer me for a sleep study and it was conclusively proven that I’ve sleep apnea. Í was provided a sleep mask but it was too claustrophobic so I exchanged it for a nasal pillow mask. I don’t feel so tired when I awake now and don’t experience muscle spasms anymore. If you suspect similar symptoms, it’s so worth getting checked. 8 hours sound sleep is important especially for us.