Overview
X-linked Charcot-Marie-Tooth disease (also called CMTX or X-linked CMT) is an inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. These nerves carry signals between the brain and the muscles and skin. In CMTX, the nerves gradually lose their ability to work properly, which leads to muscle weakness, muscle wasting, and reduced sensation, especially in the hands and feet. The most common form is CMTX1, caused by changes in the GJB1 gene, which provides instructions for making a protein called connexin 32. This protein helps nerve cells communicate and stay healthy. The disease usually affects males more severely than females because it is X-linked. Males have only one X chromosome, so a faulty gene copy causes significant symptoms. Females have two X chromosomes, so the second copy can partially compensate, often leading to milder or sometimes no symptoms. Symptoms typically begin in childhood or early adulthood and slowly get worse over time. Common problems include weakness and wasting of the lower leg and foot muscles, difficulty walking, foot deformities like high arches or hammertoes, and numbness or tingling in the hands and feet. There is no cure for CMTX, but physical therapy, occupational therapy, orthotics, and pain management can help people maintain function and quality of life for many years.
Also known as:
Key symptoms:
Muscle weakness in the feet, ankles, and lower legsMuscle wasting (shrinking) in the lower legs and handsHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent tripping and fallsNumbness or reduced sensation in the feet and handsTingling or burning feelings in the hands and feetReduced reflexes, especially at the anklesWeakness in the hands affecting grip and fine motor tasksFatigue with physical activityOccasional episodes of weakness or numbness that may come and go (more common in females)Mild hearing loss in some individualsScoliosis (curved spine) in some cases
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for X-linked Charcot-Marie-Tooth disease.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked Charcot-Marie-Tooth disease at this time.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to X-linked Charcot-Marie-Tooth disease.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene change do I have, and what does that mean for how my disease will progress?,Should other family members be tested, and how does inheritance work in my family?,What therapies or exercises are most important for me to start now?,Are there any clinical trials I might be eligible for?,What symptoms should prompt me to seek urgent medical attention?,Are there any medications or activities I should avoid because they could make my nerve damage worse?,What support services or patient organisations can help me and my family?
Common questions about X-linked Charcot-Marie-Tooth disease
What is X-linked Charcot-Marie-Tooth disease?
X-linked Charcot-Marie-Tooth disease (also called CMTX or X-linked CMT) is an inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. These nerves carry signals between the brain and the muscles and skin. In CMTX, the nerves gradually lose their ability to work properly, which leads to muscle weakness, muscle wasting, and reduced sensation, especially in the hands and feet. The most common form is CMTX1, caused by changes in the GJB1 gene, which provides instructions for making a protein called connexin 32. This protein helps nerve cel
How is X-linked Charcot-Marie-Tooth disease inherited?
X-linked Charcot-Marie-Tooth disease follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat X-linked Charcot-Marie-Tooth disease?
5 specialists and care centers treating X-linked Charcot-Marie-Tooth disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.