[A family of Machado-Joseph disease with a patient having frequent apnea in all day].
One male and two female cases in a family of Machado-Joseph disease were reported. Two cases showed typical symptoms that are characterized by bulging eyes, ophthalmoplegia, dystonia, ataxia, spasticity of extremities and amyotrophy, and were consistent with Type II (Rosenberg et al). But another one lacked diversity of the symptoms, showing mainly progressive cerebellar ataxia for over 10 years. We pointed out the existence of a new type of MJD case exhibiting only progressive cerebellar ataxia over a long period. A female patient had dyspnea and insomnia after 20 years in her clinical course, and central sleep apnea was revealed by respiratory monitor. But, the apnea and irregular respiration appeared in both awake and sleep stages. We described the importance of attention to the apnea as a new complication of Machado-Joseph disease.
Furuzono
H
H
Department of Neurology, Oita Medical College.
Moritoyo
T
T
Yamada
H
H
Tomita
M
M
Nagamatsu
K
K
D000328:Adult; D001049:Apnea / Q000209:etiology*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012891:Sleep Apnea Syndromes / Q000209:etiology; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000235:genetics*