Open AccessCompound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia
Author(s) -
Bangzhe Feng,
Guang-Fei Sun,
Qingxia Kong,
Qiubo Li
Publication year - 2018
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000012870
Subject(s) - dystonia , compound heterozygosity , medicine , levodopa , mutation , tyrosine hydroxylase , genetics , gene mutation , gene , pediatrics , endocrinology , disease , parkinson's disease , dopamine , psychiatry , biology
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-term neurological outcome need follow-up for years. Lessons: Gene mutation analysis is helpful and necessary to diagnose DRD and has important guiding significance for the subsequent treatment.