Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report.

ABSTRACT:

Rationale

Autosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficiency (THD). We report a case of compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive DRD herein.

Patient concerns

A 16-month-old Chinese boy presented with symptoms of movement disorder and growth retardation in his infant period.

Diagnoses

The genetic test revealed compound heterozygous mutations in the TH gene at c.457C>T and c.698G>A, which are pathogenic of DRD.

Interventions

The patient was administrated low-dose levodopa.

Outcomes

The treatment resulted in the substantial improvement of dystonia. His long-t

SUBMITTER: Feng B 

PROVIDER: S-EPMC6221754 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature