Living with Charcot-Marie-Tooth disease axonal type 2C
A form of Charcot-Marie-Tooth disease that causes weakness in the hands and feet, along with voice, breathing muscle, and hearing problems.
Understanding Charcot-Marie-Tooth disease axonal type 2C
It is also linked to vocal cord differences, weak breathing muscles, and hearing loss from nerve damage. Onset ranges from infancy to the 60s.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness and wasting in the lower legs and feet
- Weakness and wasting in the hands and arms
- Absent tendon reflexes
- Curved spine (scoliosis)
- Weak vocal cords
- Hearing loss from nerve damage
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 TRPV4 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
Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association and Muscular Dystrophy Association 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: Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association, Muscular Dystrophy Association
- 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 Hereditary Neuropathy Foundation Inc. 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
Changes in the TRPV4 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: autosomal cominant axonal charcot-marie-tooth disease type 2c; autosomal dominant charcot-marie-tooth disease type 2c; charcot-marie-tooth disease type 2 caused by mutation in trpv4; charcot-marie-tooth disease, axonal, autosomal dominant, type 2c; charcot-marie-tooth neuropathy type 2c; cmt2c
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease axonal type 2C · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease axonal type 2C · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease axonal type 2C · United States
- CMT Research FoundationCharcot-Marie-Tooth disease axonal type 2C · United States
- 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 Charcot-Marie-Tooth disease axonal type 2C.
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