Living with Charcot-Marie-Tooth disease X-linked dominant 1
An inherited nerve condition caused by GJB1 gene changes that causes weakness in the hands and legs, starting in childhood.
Understanding Charcot-Marie-Tooth disease X-linked dominant 1
Symptoms usually start in childhood. Hands and lower legs shrink and weaken over time, starting at the tips of the fingers and toes and moving inward. People also have high-arched feet and may have trouble lifting the front part of the foot.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wasting of muscles in the hands
- Wasting of muscles in the lower legs
- High-arched feet (pes cavus)
- Absent tendon reflexes
- Nerve damage affecting feeling
- Less sense of pain
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in GJB1 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); Ear, nose, and throat specialists (otolaryngologists); 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 GJB1 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: charcot marie tooth disease x-linked 1; charcot-marie-tooth disease type x caused by mutation in gjb1; charcot-marie-tooth disease x-linked dominant type 1; charcot-marie-tooth disease, x-linked dominant, 1; charcot-marie-tooth disease, x-linked dominant, type 1; charcot-marie-tooth disease, x-linked, 1
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease X-linked dominant 1 · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease X-linked dominant 1 · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease X-linked dominant 1 · United States
- CMT Research FoundationCharcot-Marie-Tooth disease X-linked dominant 1 · 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 X-linked dominant 1.
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