Danon disease is a severe multisystem disorder clinically characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation in male patients, and by a milder phenotype (predominantly involving cardiac muscle) in female patients. The disease is inherited as an X‐linked dominant trait. The primary deficiency of lysosome‐associated membrane protein‐2 (LAMP‐2) causes disruption of autophagy, leading to an impaired fusion of lysosomes to autophagosomes and biogenesis of lysosomes. We surveyed over 500 Danon disease patients reported in the literature from the first description to the present, in order to summarize the clinical, pathological and molecular data and treatment perspectives. An early molecular diagnosis is of crucial importance for genetic counselling and for therapeutic interventions: in male patients, the prognosis is poor due to rapid progression towards heart failure, and only heart transplantation modifies the disease course.

中文翻译：

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达农病：自然史和最新进展回顾

达农病是一种严重的多系统疾病，其临床特征为男性患者的肥厚性心肌病、骨骼肌病和智力低下，女性患者的表型较轻（主要累及心肌）。该疾病是作为 X 连锁显性性状遗传的。溶酶体相关膜蛋白-2 (LAMP-2) 的主要缺陷导致自噬破坏，导致溶酶体与自噬体的融合和溶酶体的生物发生受损。我们调查了从最初描述到现在文献报道的500余名Danon病患者，以总结临床、病理和分子数据和治疗前景。早期分子诊断对于遗传咨询和治疗干预至关重要：在男性患者中，