雷特综合征1966

由于男性患者几乎无法存活，故Rett综合征好发于女性幼童，病童会有神经急速退化、发展迟缓的现象。患者于出生至6～18个月内，生长发育与常人一样。刚开始发病时，初始症状有翻白眼、婴儿失去吸吮反射、不规则转头、运动发展障碍等现象发生，有些初始症状与普瑞德威利综合征出现重叠，加上文献资料极为稀少，故难以判明症状。之后，开始出现神经失调：运动能力渐渐消失、失去语言能力、正确的反射能力、便秘，也可以经脑部扫描发现脑皮质萎缩的情形，在生活中也经常发生痉挛、癫痫等神经阈值低下的症状。

Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in girls. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. The severity of the condition is variable.

Rett syndrome is due to a genetic mutation, usually in the MECP2 gene, on the X chromosome. It almost always occurs as a new mutation, with less than one percent of cases being inherited. It occurs almost exclusively in girls; boys who have a similar mutation typically die shortly after birth. Diagnosis is based on the symptoms and can be confirmed with genetic testing.

There is no known cure for Rett syndrome. Treatment is directed at improving symptoms. Anticonvulsants may be used to help with seizures. Special education, physiotherapy, and leg braces may also be useful depending on the needs of the child. Many of those with the condition live into middle age.

The condition affects about 1 in 8,500 females. In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition.

History

Andreas Rett, a pediatrician in Vienna Austria, first described the condition in 1966. As his writings were in German, they did not become widely known in most of the medical world. Bengt Hagberg, a Swedish pediatrician, published an English article in 1983 and named the condition after Rett. In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition.

Research

Gene therapy is under study in animal models to achieve regulated expression of a normal MECP2 gene. In March 2022, Taysha Gene Therapies announced that they had received Clinical Trial Application (CTA) approval from Health Canada for a clinical trial of their investigational gene therapy for women with Rett Syndrome.