Dworzak F, Casazza F, Mora M, De Maria R, Gronda E, Baroldi G, Rimoldi M, Morandi L, Cornelio F
Division of Neuromuscular Disorders, Istituto Neurologico C. Besta, Milan, Italy.
Neuromuscul Disord. 1994 May;4(3):243-7. doi: 10.1016/0960-8966(94)90025-6.
Lysosomal glycogen storage in muscle with normal acid maltase activity is a rare inherited condition characterized by cardiomyopathy, mental retardation and mild myopathy in males, but generally only cardiomyopathy in females. Three cases (index case, his sister and her son) are described in a family with at least two other affected members. The index case underwent a successful heart transplant. The sister has cardiac involvement, myopathic changes and mental impairment--to our knowledge the first report of multisystem involvement in a female. We propose that skeletal muscle should be examined in young patients with hypertrophic cardiomyopathy. Furthermore, female relatives of males with the disease should be investigated for cardiomyopathy; they would be excellent candidates for life-saving heart transplant, since myopathy and mental retardation, if clinically evident, are mild.
肌肉中存在溶酶体糖原贮积且酸性麦芽糖酶活性正常是一种罕见的遗传性疾病，其特征为男性出现心肌病、智力发育迟缓及轻度肌病，而女性通常仅有心肌病。在一个至少还有另外两名患病成员的家族中描述了三例病例（索引病例、他的妹妹及其儿子）。索引病例接受了成功的心脏移植。他的妹妹有心脏受累、肌病性改变和智力损害——据我们所知，这是女性多系统受累的首例报道。我们建议，对于患有肥厚型心肌病的年轻患者应检查骨骼肌。此外，患有该病的男性的女性亲属应接受心肌病检查；她们将是挽救生命的心脏移植的极佳候选者，因为如果临床上明显，肌病和智力发育迟缓都很轻微。
