Progress on diagnosis and treatment of TH-gene related dopa-responsive dystonia / 中华实用儿科临床杂志

ABSTRACT

Dopa-responsive dystonia(DRD) is a clinical syndrome characterized by childhood dystonia and dramatic and sustained response to low-dose levodopa.The deficiency of any link in dopamine synthesis pathway can lead to DRD that is caused by TH gene mutation and is autosomal recessive, which results in the reduction of tyrosine hydroxylase(TH) synthesis and extensive deficiency of dopamine and catecholamine.However, DRD presents atypical clinical manifestations.Mild patients mainly present with dystonia.Some of them might progressively develop into spastic paraplegia and some may have parkinsonian features.Most of them display good response to levodopa.Severe patients present with progressively complex infantile encephalopathy, and badly response to levodopa and remnant intellectual development problems.Most of them manifest with declining homovanillic acid(HVA) in cerebrospinal fluid.However, due to the noncharacteristic clinical course and nonspecific laboratory tests of TH DRD, gene detection still is the only reliable criterion of diagnosis so far.Low-dose levodopa is effective to most mild patients and can improve symptoms to severe patients to some extent.