Can we treat respiratory failure in Friedreich ataxia?
M. I. Botez, P. Mayer, F. Bellemare and J. Couture
Behavioral Neurology, Neurobiology, and Neuropsychology Unit, Hotel-Dieu Hospital, Montreal, Quebec, Canada.
BACKGROUND: Neurochemical disorders associated with spinocerebellar ataxias
are multiple. OBJECTIVE: To use replacement and neuroprotective therapy in
a case of severe respiratory failure in Friedreich ataxia. PATIENT AND
TREATMENT: A 44-year-old man with severe Friedreich ataxia displayed
arduous periodic breathing associated with minor desaturation as well as
obstructive or mixed apneas associated with severe desaturation during the
night. He was given oxitriptan (5-hydroxy-L-tryptophan) (1500 mg/d),
thiamine hydrochloride (100 mg/d), and amantadine hydrochloride (100 mg/d).
The first sleep study was conducted during the night before treatment,
whereas the second was performed during the night after 9 months of
treatment. RESULTS: After treatment, striking clinical improvement of
spastic dysphonia was accompanied by significant diminution in the time
spent in periodic breathing and in the number of obstructive and mixed
apneas during the night. Controlled studies are needed.