J Mov Disord.
2020 May;13(2):150-153. 10.14802/jmd.19069.
Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother
- Affiliations
-
- 1DDC Clinic Center for Special Needs Children, Middlefield, OH, USA
- 2Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA
- 3University Hospitals Rainbow Babies & Children’s Hospital, Cleveland, OH, USA
- 4Department of Cardiovascular & Metabolic Sciences, Cleveland Clinic, Cleveland, OH, USA
- KMID: 2503082
- DOI: http://doi.org/10.14802/jmd.19069
Abstract
- Dopa-responsive dystonia (DRD) is a complex genetic disorder with either autosomal dominant or autosomal recessive inheritance, with autosomal dominant being more frequent. Autosomal dominant DRD is known to be caused by mutations in the GCH1 gene, with incomplete penetrance frequently reported, particularly in males. Here, we report a male patient with DRD caused by exon 1 deletion in the GCH1 gene inherited from the asymptomatic mother. The patient had an atypical presentation, notably with no dystonia, and underwent extensive workup for a myriad of neuromuscular disorders before a low-dose L-dopa trial and confirmatory genetic testing were performed. Our experience with this family highlights an atypical presentation of DRD and prompts us to consider the genetic complexity of DRD.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics
- Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy
- A Case of Dopa-responsive Dystonia with a Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy for 2 Years
- Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopaminergic deficiency
- Dopa-responsive Dystonia Misdiagnosed as Cerebral Palsy and Hereditary Spastic Paraplegia 2 Cases: Two cases report
