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Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report
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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221754/ https://www.ncbi.nlm.nih.gov/pubmed/30383639 http://dx.doi.org/10.1097/MD.0000000000012870 |
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author | Feng, Bangzhe Sun, Guangfei Kong, Qingxia Li, Qiubo |
author_facet | Feng, Bangzhe Sun, Guangfei Kong, Qingxia Li, Qiubo |
author_sort | Feng, Bangzhe |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6221754 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-62217542018-12-04 Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report Feng, Bangzhe Sun, Guangfei Kong, Qingxia Li, Qiubo Medicine (Baltimore) Research Article 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. Wolters Kluwer Health 2018-11-02 /pmc/articles/PMC6221754/ /pubmed/30383639 http://dx.doi.org/10.1097/MD.0000000000012870 Text en Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 |
spellingShingle | Research Article Feng, Bangzhe Sun, Guangfei Kong, Qingxia Li, Qiubo Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report |
title | Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report |
title_full | Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report |
title_fullStr | Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report |
title_full_unstemmed | Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report |
title_short | Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report |
title_sort | compound heterozygous mutations in the th gene in a chinese family with autosomal-recessive dopa-responsive dystonia: a case report |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221754/ https://www.ncbi.nlm.nih.gov/pubmed/30383639 http://dx.doi.org/10.1097/MD.0000000000012870 |
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