Living with Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
A rare inherited nerve condition starting in adulthood with slowly worsening weakness in the hands and feet and walking trouble.
Understanding Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
It causes slowly worsening weakness and muscle loss in the hands and feet, reduced reflexes in the legs, and mild loss of feeling at the ends of limbs. Most people have walking difficulties.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Slowly worsening weakness in the hands and feet
- Muscle loss at the ends of the limbs
- Reduced reflexes in the legs
- Mild loss of feeling in the feet and hands
- Trouble walking
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TFG are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the TFG gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant charcot-marie-tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation; cmt2 due to tfg mutation
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation.
Explore research for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Explore actively recruiting Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation studies with HealthSpark.
Find actively recruiting studies for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.