抄録
Marinesco-Sjogren症候群8家系14例の運動機能と移動能力の推移を分析した.14例は, 1)ミオパチーを中核症候として, 2)常染色体劣性遺伝, 3)精神運動発達遅滞, 4)幼児期発症の白内障, 5)上肢に軽度の小脳症状, 6)骨格異常, 7)原発性性腺機能低下, などの特徴を共有していた.経過も類似しており, 小児期に身体の成長と訓練によって杖歩行が可能になったものの, 下肢優位の筋力低下が進行性で成人期には車椅子の生活に至っていた.一方, 上肢の筋力低下が比較的軽度のために, 食事や着衣動作は自立していた.幼児期に目立つ小脳症状は小児期に改善を示し, 以後軽度であった.以上, 本症では年齢により症状が変化することから, リハビリテーションにあたってはこの経過を理解することが必要であろう.
To elucidate the factor(s)determining motor handicap and changes in ambulatory capacity in Marinesco-Sjogren syndrome(MSS), we have followed 14 patients aged 2〜36 years from 8 families for 4〜24 years. All these patients showed progressive myopathy with typical fearutes of MSS:1)autosomal recessive inheritance, 2)bilateral cataracts with rapid progression in infancy, 3)delayed developmental milestones, 4)mental retardation, 5)severe cerebellar hypogenesis with dilatation of the 4th ventricle and cisterna magna, 6)multiple skeletal anomalies, 7)primary hypogonadism with amenorrhea in females and testicular atrophy in males, 8)defective lateral gaze and concomitant convergent strabism, and 9)plump and acrocyanotic feet. During infancy MSS patients exibited apparent cerebellar signs including truncal oscillation, and mild atrophy and weakness of extremities. With somatic development in childhood their physical disability was ameliorated and cerebellar signs were hardly dicernible. They learned to walk with support. However, muscular weakness with predilection for the lower extremities was very slowly progressive, leading to the non-ambulant state during adolescence or young adulthood. On the other hand, the function of the upper extremities remained useful even in their 20's or 30's. Other features of MSS including mental defect. cataracts and impaired ocular movement seemed non-progressive. Our present observation confirmed our hypothesis that muscle involvement in MSS, present in infancy and probably from birth, becomes a main clinical picture and causes severe disability in adulthood. Rehabilitation program should be arranged on the basis of the changes in motor impairmant seen during the course of this disease.
