A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremo...
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation for atypical dopamine transporter deficiency syndrome is limited due to its rarity and the lack of systematic clinical studies. As this condition affects a small number of individuals, comprehensive research and characterization have not yet been established. This can understandably lead to feelings of frustration for patients and families seeking more information.
To navigate atypical dopamine transporter deficiency syndrome, consider seeking a neurologist with expertise in movement disorders or hereditary ataxias. While there are currently no patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any potential participation in natural history studies, which may help in understanding the condition better.
Currently, the only orphan drug designated for atypical dopamine transporter deficiency syndrome is an adeno-associated viral vector serotype 2 containing the human SLC6A3 gene, which is still in development. Unfortunately, there are no active clinical trials available at this time, limiting immediate treatment options. For updates on potential future trials, you can search ClinicalTrials.gov for related studies.
Actionable guidance for navigating care for atypical dopamine transporter deficiency syndrome
To navigate atypical dopamine transporter deficiency syndrome, consider seeking a neurologist with expertise in movement disorders or hereditary ataxias. While there are currently no patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any potential participation in natural history studies, which may help in understanding the condition better.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for atypical dopamine transporter deficiency syndrome is limited due to its rarity and the lack of systematic clinical studies. As this condition affects a small number of individuals, comprehensive research and characterization have not yet been established. This can understandably lead to feelings of frustration for patients and families seeking more information.
To navigate atypical dopamine transporter deficiency syndrome, consider seeking a neurologist with expertise in movement disorders or hereditary ataxias. While there are currently no patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any potential participation in natural history studies, which may help in understanding the condition better.
Currently, the only orphan drug designated for atypical dopamine transporter deficiency syndrome is an adeno-associated viral vector serotype 2 containing the human SLC6A3 gene, which is still in development. Unfortunately, there are no active clinical trials available at this time, limiting immediate treatment options. For updates on potential future trials, you can search ClinicalTrials.gov for related studies.
Actionable guidance for navigating care for atypical dopamine transporter deficiency syndrome
To navigate atypical dopamine transporter deficiency syndrome, consider seeking a neurologist with expertise in movement disorders or hereditary ataxias. While there are currently no patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any potential participation in natural history studies, which may help in understanding the condition better.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for atypical dopamine transporter deficiency syndrome is limited due to its rarity and the lack of systematic clinical studies. As this condition affects a small number of individuals, comprehensive research and characterization have not yet been established. This can understandably lead to feelings of frustration for patients and families seeking more information.
To navigate atypical dopamine transporter deficiency syndrome, consider seeking a neurologist with expertise in movement disorders or hereditary ataxias. While there are currently no patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any potential participation in natural history studies, which may help in understanding the condition better.
Currently, the only orphan drug designated for atypical dopamine transporter deficiency syndrome is an adeno-associated viral vector serotype 2 containing the human SLC6A3 gene, which is still in development. Unfortunately, there are no active clinical trials available at this time, limiting immediate treatment options. For updates on potential future trials, you can search ClinicalTrials.gov for related studies.
Actionable guidance for navigating care for atypical dopamine transporter deficiency syndrome
To navigate atypical dopamine transporter deficiency syndrome, consider seeking a neurologist with expertise in movement disorders or hereditary ataxias. While there are currently no patient organizations identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about any potential participation in natural history studies, which may help in understanding the condition better.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Consider asking your healthcare providers these condition-specific questions
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.