Tay-sachs
Also known as hexosaminidase A deficiency, Tay-Sachs disease (disorder), disease, Tay-Sachs, GM2 gangliosidosis, type 1, Hexosaminidase a Deficiency, Adult Type, Hexosaminidase alpha-subunit deficiency (variant B), Gm2-Gangliosidosis, Variant B1, Gm2-Gangliosidosis, Adult Chronic Type
Human medical condition
Key facts
- Other names
- GM2 gangliosidosis, hexosaminidase A deficiency
- Specialty
- Medical genetics
- Symptoms
- Initially : Decreased ability to turn over, sit, or crawl , Later : Seizures , hearing loss , inability to move
- Usual onset
- Three-to-six months of age
- Duration
- Long term
- Types
- Infantile, juvenile, late-onset
- Causes
- Genetic ( autosomal recessive )
- Diagnostic method
- Testing blood hexosaminidase A levels, genetic testing
- Differential diagnosis
- Sandhoff disease , Leigh syndrome , neuronal ceroid lipofuscinoses
- Treatment
- Supportive care , psychosocial support
- Prognosis
- Death often occurs in early childhood (3 months to 6 months)
Article · 中文
泰-萨克斯病（英語：Tay-Sachs），也称为家族黑矇性癡呆症，由英国眼科医生华伦·泰伊（Waren Tay）和美国神经病学医生伯纳德·萨克斯（Bernard Sachs）的姓氏命名。患者细胞内的溶酶体缺少，导致神经节GM2积累，影响细胞功能，造成。
Abstract from DBpedia / Wikipedia · CC BY-SA