Overview
Autosomal recessive Charcot-Marie-Tooth disease type 2X (also called AR-CMT2X) is a very rare inherited nerve disorder that belongs to the Charcot-Marie-Tooth (CMT) family of diseases. CMT diseases affect the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs. In this specific type, the nerve fibers themselves (called axons) are damaged, which is why it falls under the "type 2" category of CMT, also known as axonal CMT. People with AR-CMT2X typically experience progressive muscle weakness and wasting, especially in the feet, lower legs, and hands. Over time, this can lead to difficulty walking, foot deformities such as high arches or hammertoes, and reduced sensation in the hands and feet. Because the condition is autosomal recessive, a person must inherit two copies of the faulty gene — one from each parent — to develop the disease. There is currently no cure for AR-CMT2X. Treatment focuses on managing symptoms and maintaining quality of life. This may include physical therapy, occupational therapy, orthopedic devices like braces or special shoes, and sometimes surgery to correct foot or joint deformities. Pain management may also be needed. Research into potential therapies for CMT diseases is ongoing, and genetic understanding of this condition continues to grow.
Also known as:
Key symptoms:
Progressive muscle weakness in the feet and lower legsMuscle weakness in the handsMuscle wasting (loss of muscle bulk) in the lower legsHigh arched feet (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent trippingReduced sensation or numbness in the feet and handsTingling or burning sensations in the extremitiesDifficulty with fine motor tasks like buttoning clothesFoot drop (difficulty lifting the front of the foot)Decreased reflexesBalance problemsPain in the legs or feet
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
2 eventsUniversity Hospital, Strasbourg, France — NA
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive Charcot-Marie-Tooth disease type 2X.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Autosomal recessive Charcot-Marie-Tooth disease type 2X.
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 Autosomal recessive Charcot-Marie-Tooth disease type 2X.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.How quickly is this condition likely to progress in my case or my child's case?,What physical therapy program do you recommend, and how often should sessions occur?,Are there any medications or substances I should avoid that could worsen nerve damage?,Should other family members be tested for carrier status?,What assistive devices or braces might help with walking and hand function?,Are there any clinical trials or research studies I could participate in?,How often should follow-up nerve conduction studies or evaluations be done?
Common questions about Autosomal recessive Charcot-Marie-Tooth disease type 2X
What is Autosomal recessive Charcot-Marie-Tooth disease type 2X?
Autosomal recessive Charcot-Marie-Tooth disease type 2X (also called AR-CMT2X) is a very rare inherited nerve disorder that belongs to the Charcot-Marie-Tooth (CMT) family of diseases. CMT diseases affect the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs. In this specific type, the nerve fibers themselves (called axons) are damaged, which is why it falls under the "type 2" category of CMT, also known as axonal CMT. People with AR-CMT2X typically experience progressive muscle weakness and wasting, especially in the feet, lower legs, a
How is Autosomal recessive Charcot-Marie-Tooth disease type 2X inherited?
Autosomal recessive Charcot-Marie-Tooth disease type 2X follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive Charcot-Marie-Tooth disease type 2X typically begin?
Typical onset of Autosomal recessive Charcot-Marie-Tooth disease type 2X is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Autosomal recessive Charcot-Marie-Tooth disease type 2X?
Yes — 1 recruiting clinical trial is currently listed for Autosomal recessive Charcot-Marie-Tooth disease type 2X on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.