球脊髄性筋萎縮症の遺伝子解析

取得学位 : 博士（医学）, 学位授与番号 : 医博乙第1242号,学位授与年月日：平成5年10月20日,学位授与年：199

Pseudo-Argyll Robertson pupil of patients with spinocerebellar ataxia type 1 (SCA1)

金沢大学保健管理センターA pseudo-Argyll Robertson pupil is a neurological sign indicating a normal near reflex but the absence of a light reflex (light-near dissociation), a lack of miosis, and pupil irregularity. It has been reported in patients with diabetes mellitus, multiple sclerosis, Wernicke\u27s encephalopathy, sarcoidosis, tumours, and haemorrhage.1 Although the appearance of pseudo-Argyll Robertson pupil is very similar to Holmes-Adie pupil, the first is distinguishable from the second by the location of lesions and pharmacological response. The responsible lesion in pseudo-Argyll Robertson pupil is in the central region, whereas that of Holmes-Adie pupil is peripheral. Dilute pilocarpine constricts the pupils of patients with Holmes-Adie pupil, but it is not effective in patients with pseudo-Argyll Robertson pupil. We present a patient with spinocerebellar ataxia type 1 (SCA1) and her asymptomatic younger brother who both exhibited pseudo-Argyll Robertson pupil

Improvement in Activities of Daily Living Effected by Physical Therapy Intervention for a Patient Who Developed Distal Myopathy as a Complication of Disuse Syndrome

Purpose: We aimed to return using the toilet of a patient with distal myopathy by using exercise therapy. Methods: The patient was a 65-year-old woman who had developed depression and had therefore experienced long-term immobility. She had developed deteriorating the muscular strength and was restricted to diaper use. On alleviation of the depression, the patient wanted to use the toilet by herself. We used PNF muscle strengthening exercises to help the patient regain continence, while taking care to prevent overuse syndrome. This therapy was performed in 7 stages and we assessed the results in each stage. We also assessed the patient’s muscular strength by using a handheld dynamometer and measured muscle thickness by ultra sonography. Results: After 4 weeks, the patient’s muscular strength improved. After 8 weeks, she could operate the toilet without wearing her under-pants and pants. Conclusions: The muscular strength of a distal myopathy patient who has experienced long-term immobility can be improved by exercise, while taking care to prevent overuse syndrome