PDF(Pubmed)
Abstract：
Late-onset forms of GM2 gangliosidosis-mainly, Tay-Sachs disease and Sandhoff disease-are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2 ganglioside primarily within neurons, leading to cell death and progressive neurodegenerative symptoms, including ataxia, dysarthria, muscle weakness, tremors, atrophy, and psychosis. Presentation is variable and often mimics more common neurodegenerative disorders. We conducted semi-structured interviews on GM2 gangliosidoses diagnosis and treatment with five experts, 30 neurologists, and 28 patients and caregivers. Symptom onset occurred during adolescence/early adulthood in 92% of patients (median age: 14 years). Patients first visited a healthcare provider at a median age of 20 years and received a GM2 diagnosis at a median age of 26 years. Nearly all patients reported problems with their legs and balance starting from symptom onset. Problems with memory, attention span, speech and fatigue were reported more after diagnosis. Patients visited an average of eight healthcare providers before receiving a diagnosis; 64% were diagnosed by a neurologist. Four neurologists (13%) in our sample were aware that there are late-onset forms of GM2 gangliosidosis. The path to diagnosis is long for this late-onset form of a classically fatal infantile disease.
摘要：
GM2神经节苷脂的晚发性形式-主要，Tay-Sachs病和Sandhoff病在临床实践中的认识不足。在这些罕见的溶酶体贮积症中，β-氨基己糖苷酶A的缺乏导致GM2神经节苷脂主要在神经元内过度积累，导致细胞死亡和进行性神经退行性症状，包括共济失调,构音障碍,肌肉无力,震颤,萎缩,和精神病。呈现是可变的，并且通常模仿更常见的神经退行性疾病。我们与五位专家进行了关于GM2神经节苷脂诊断和治疗的半结构化访谈，30个神经科医生,28名患者和护理人员。92％的患者在青春期/成年早期出现症状（中位年龄：14岁）。患者在中位年龄为20岁时首次访问医疗保健提供者，并在中位年龄为26岁时接受GM2诊断。几乎所有患者都报告了从症状发作开始的腿部和平衡问题。记忆的问题，注意范围,诊断后，言语和疲劳报告更多。在接受诊断之前，患者平均拜访了8家医疗保健提供者；64％的患者是由神经科医生诊断的。我们样本中的四位神经科医生（13％）意识到GM2神经节苷脂病有迟发性形式。对于这种典型的致命婴儿疾病的迟发性形式，诊断途径很长。
