Sandhoff disease is an under-recognized disease that may present as a lower motor neuron disorder in adulthood. We report the case of siblings presenting in their late 40s with a motor neuron disease phenotype and were misdiagnosed as amyotrophic lateral sclerosis and later found to have Sandhoff disease. Sandhoff disease should be considered in patients presenting with a slowly progressive predominately lower motor neuron disorder. A simple low-cost blood test can confirm the diagnosis.

中文翻译：

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成人发作桑德霍夫病：肌萎缩性侧索硬化症的罕见模仿者。

Sandhoff病是一种未被充分认识的疾病，在成年后可能表现为下运动神经元疾病。我们报道了一个在四十多岁时出现运动神经元疾病表型的兄弟姐妹的病例，被误诊为肌萎缩性侧索硬化症，后来发现患有桑霍夫氏病。表现为缓慢进行性，主要是下运动神经元疾病的患者应考虑Sandhoff病。简单的低成本血液检查可以确认诊断。