Overview
Charcot-Marie-Tooth disease type 2R (CMT2R) is a rare inherited nerve disorder that belongs to the larger family of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2R specifically affects the axons — the long fibers of nerve cells that carry electrical signals between the brain, spinal cord, and muscles. Unlike some other CMT types that damage the protective coating (myelin) around nerves, CMT2R directly damages the nerve fibers themselves, which is why it is classified as an "axonal" form (type 2). CMT2R is caused by mutations in the TRIM2 gene. People with this condition typically experience progressive weakness and wasting of muscles in the feet, lower legs, hands, and forearms. Over time, this can lead to difficulty walking, foot deformities such as high arches or hammertoes, and problems with fine motor tasks like buttoning clothes or writing. Sensation in the hands and feet may also be reduced, leading to numbness or tingling. There is currently no cure for CMT2R. Treatment focuses on managing symptoms and maintaining function. Physical therapy, occupational therapy, orthotic devices such as ankle-foot braces, and sometimes surgery for foot deformities are the main approaches. Pain management may also be needed. Research into potential disease-modifying therapies for CMT diseases is ongoing, but no specific targeted treatment is yet available for CMT2R.
Also known as:
Key symptoms:
Weakness in the feet and lower legsMuscle wasting in the lower legs, giving a thin or 'inverted champagne bottle' appearanceWeakness in the hands and forearmsHigh foot arches (pes cavus)Hammertoes or curled toesDifficulty walking or frequent trippingFoot drop (trouble lifting the front of the foot)Numbness or reduced sensation in hands and feetTingling or burning feelings in the extremitiesDifficulty with fine motor tasks like writing or buttoningBalance problemsReduced reflexesFatigue in the limbs
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Charcot-Marie-Tooth disease type 2R.
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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 Charcot-Marie-Tooth disease type 2R.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 severe is my (or my child's) nerve damage based on current testing?,What is the expected rate of progression for CMT2R?,What physical therapy and rehabilitation programs do you recommend?,Are there any medications or substances I should avoid because they could worsen nerve damage?,Should other family members be tested for the TRIM2 gene mutation?,Are there any clinical trials or research studies for CMT2R that I could participate in?,What assistive devices or braces would be most helpful right now?
Common questions about Charcot-Marie-Tooth disease type 2R
What is Charcot-Marie-Tooth disease type 2R?
Charcot-Marie-Tooth disease type 2R (CMT2R) is a rare inherited nerve disorder that belongs to the larger family of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2R specifically affects the axons — the long fibers of nerve cells that carry electrical signals between the brain, spinal cord, and muscles. Unlike some other CMT types that damage the protective coating (myelin) around nerves, CMT2R directly damages the nerve fibers themselves, which is why it is classified as an "axonal" form (type 2). CMT2R is caused by mutations in the TRIM2
How is Charcot-Marie-Tooth disease type 2R inherited?
Charcot-Marie-Tooth disease type 2R follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Charcot-Marie-Tooth disease type 2R typically begin?
Typical onset of Charcot-Marie-Tooth disease type 2R is childhood. Age of onset can vary across affected individuals.
Which specialists treat Charcot-Marie-Tooth disease type 2R?
1 specialists and care centers treating Charcot-Marie-Tooth disease type 2R are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.