Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for autosomal dominant Charcot-Marie-Tooth disease type 2W is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the number of systematic clinical studies and comprehensive data collection, making it challenging to characterize the disease fully. Additionally, the genetic basis was only recently identified, which means that clinical characterization is still ongoing.
To navigate your condition effectively, seek a neurologist with expertise in hereditary neuropathies, specifically those familiar with Charcot-Marie-Tooth disease. While there are currently no identified patient organizations or registries for this specific condition, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for guidance and support. Consider genetic counseling to discuss the implications of the HARS gene mutation for you and your family, which can be found through the National Society of Genetic Counselors at findageneticcounselor.com.
Actionable guidance for navigating care for autosomal dominant Charcot-Marie-Tooth disease type 2W
To navigate your condition effectively, seek a neurologist with expertise in hereditary neuropathies, specifically those familiar with Charcot-Marie-Tooth disease. While there are currently no identified patient organizations or registries for this specific condition, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for guidance and support. Consider genetic counseling to discuss the implications of the HARS gene mutation for you and your family, which can be found through the National Society of Genetic Counselors at findageneticcounselor.com.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for autosomal dominant Charcot-Marie-Tooth disease type 2W is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the number of systematic clinical studies and comprehensive data collection, making it challenging to characterize the disease fully. Additionally, the genetic basis was only recently identified, which means that clinical characterization is still ongoing.
To navigate your condition effectively, seek a neurologist with expertise in hereditary neuropathies, specifically those familiar with Charcot-Marie-Tooth disease. While there are currently no identified patient organizations or registries for this specific condition, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for guidance and support. Consider genetic counseling to discuss the implications of the HARS gene mutation for you and your family, which can be found through the National Society of Genetic Counselors at findageneticcounselor.com.
Actionable guidance for navigating care for autosomal dominant Charcot-Marie-Tooth disease type 2W
To navigate your condition effectively, seek a neurologist with expertise in hereditary neuropathies, specifically those familiar with Charcot-Marie-Tooth disease. While there are currently no identified patient organizations or registries for this specific condition, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for guidance and support. Consider genetic counseling to discuss the implications of the HARS gene mutation for you and your family, which can be found through the National Society of Genetic Counselors at findageneticcounselor.com.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for autosomal dominant Charcot-Marie-Tooth disease type 2W is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the number of systematic clinical studies and comprehensive data collection, making it challenging to characterize the disease fully. Additionally, the genetic basis was only recently identified, which means that clinical characterization is still ongoing.
To navigate your condition effectively, seek a neurologist with expertise in hereditary neuropathies, specifically those familiar with Charcot-Marie-Tooth disease. While there are currently no identified patient organizations or registries for this specific condition, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for guidance and support. Consider genetic counseling to discuss the implications of the HARS gene mutation for you and your family, which can be found through the National Society of Genetic Counselors at findageneticcounselor.com.
Actionable guidance for navigating care for autosomal dominant Charcot-Marie-Tooth disease type 2W
To navigate your condition effectively, seek a neurologist with expertise in hereditary neuropathies, specifically those familiar with Charcot-Marie-Tooth disease. While there are currently no identified patient organizations or registries for this specific condition, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for guidance and support. Consider genetic counseling to discuss the implications of the HARS gene mutation for you and your family, which can be found through the National Society of Genetic Counselors at findageneticcounselor.com.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
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.