| dystonia due on GCH1 loss-of-function mutation |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in clinvar
|
| (A;T)
|
4.4
|
dystonia due on GCH1 loss-of-function mutation
|
The degree of dystonia may vary; see the discussion on the SNPedia GCH1 webpage. This is a genotype with recommended actions if clinically confirmed. In brief:
- Be aware that penetrance varies widely, including between genders.
- Have an exam by a movement disorder specialist at least several times a year.
- If diagnosed, consider levodopa administration.
- Evaluate relatives at risk in order to identify as early as possible those who would benefit from initiation of treatment.
The full ClinGen Actionability report about GCH1-deficient dopa-responsive dystonia (DRD) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
