Living with Charcot-Marie-Tooth disease axonal type 2O
A rare inherited nerve condition starting in early childhood with slowly worsening leg weakness and delayed motor skills.
Understanding Charcot-Marie-Tooth disease axonal type 2O
It causes slowly worsening weakness and wasting of the lower legs, delayed motor development, varying loss of feeling, and high foot arches. Nerve signals travel at normal or near-normal speeds. Some people also have proximal weakness, joint stiffness, scoliosis, thinking differences, or muscle stiffness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed motor skills
- Weakness in hands and feet
- Loss of feeling in hands and feet
- High-arched feet (pes cavus)
- Reduced reflexes
- Frequent falls
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 DYNC1H1 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 DYNC1H1 Association 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 DYNC1H1 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 dominant axonal charcot-marie-tooth disease type 2o; autosomal dominant charcot-marie-tooth disease type 2o; charcot-marie-tooth disease caused by mutation in dync1h1; charcot-marie-tooth disease, axonal, autosomal dominant, type 2o; charcot-marie-tooth disease, axonal, type 20; charcot-marie-tooth neuropathy axonal type 2o
Patient organizations
- DYNC1H1 AssociationCharcot-Marie-Tooth disease axonal type 2O · United States
- Simons SearchlightCharcot-Marie-Tooth disease axonal type 2O · United States
- CMT Research FoundationCharcot-Marie-Tooth disease axonal type 2O · 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 2O.
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