Lönnqvist Tuula
HYKS, naisten ja lastentautien tulosyksikkö, lastenneurologian klinikkatyhmä, HUS.
Duodecim. 2011;127(14):1460-9.
IOSCA is a difficult, progressive degenerative disease causing damage to the peripheral and central nervous system. All known 24 patients are Finnish. Initial symptoms include ataxia, athetosis, ophthalmoplegia, hearing disability and muscular hypotonia. Sensory axonal neuropathy and associated optic atrophy are typical of the disease, as well as primary hypergonadotropic hypogonadism in girls. The patients are progressively severely disabled from the age of approx. eighteen months. The pathogenesis is unknown and there is no curative treatment for the disease.
婴儿期进行性脊髓小脑共济失调（IOSCA）是一种难治的、进行性退行性疾病，会损害周围神经系统和中枢神经系统。所有已知的24名患者均为芬兰人。初始症状包括共济失调、手足徐动症、眼肌麻痹、听力障碍和肌张力减退。感觉轴索性神经病及相关的视神经萎缩是该疾病的典型症状，女孩还会出现原发性高促性腺激素性性腺功能减退。患者从大约18个月大时开始逐渐严重致残。其发病机制尚不清楚，且该疾病没有治愈性疗法。
