This website provides information on patients with mutations in the TH gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TH gene is a multisystem disorder characterized by generalized dystonia, rigidity, tremors, infantile parkinsonism, pseudo-spastic paraplegia, and progressive infantile encephalopathy.

Not all individuals with a mutation in the TH gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TH gene.

Bing Bai, PhD, Kunming university of science and technology, Yunnan, China, baib@lpbr.cn
Jie Zhang, MD, Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, National Health Commission Key Laboratory of Preconception Health Birth in Western China, The First People’s Hospital of Yunnan Province, Yunnan, China, kmzhjie@aliyun.com
Lifen Duan, MD, The Affiliated Children’s Hospital of Kunming Medical University, Yunnan, China, 18908895186@189.cn