Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (also called CMT2 with giant axons) is a very rare inherited nerve disorder that belongs to the broader family of Charcot-Marie-Tooth (CMT) diseases. CMT diseases affect the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs in your arms and legs. In this specific form, the nerve fibers (axons) become abnormally enlarged or swollen, which is why they are called "giant axons." This swelling disrupts the normal function of the nerves, leading to progressive muscle weakness and wasting, particularly in the feet, lower legs, hands, and forearms. People with this condition typically notice difficulty walking, foot deformities such as high arches or hammertoes, and reduced sensation in the hands and feet. Over time, the weakness can spread and make everyday tasks like buttoning a shirt or climbing stairs more challenging. Because the disease is progressive, symptoms tend to worsen gradually over years. There is currently no cure for this form of CMT. Treatment focuses on managing symptoms and maintaining function for as long as possible. This includes physical therapy, occupational therapy, orthopedic devices like braces or special shoes, and sometimes surgery to correct foot deformities. Pain management may also be needed. Research is ongoing to better understand the disease and develop targeted therapies.
Also known as:
Key symptoms:
Progressive muscle weakness in the feet and lower legsMuscle weakness in the hands and forearmsMuscle wasting (loss of muscle bulk) in the legs and armsHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent trippingReduced sensation or numbness in the hands and feetTingling or burning sensations in the extremitiesLoss of balance and coordinationDifficulty with fine motor tasks like writing or buttoning clothesFoot drop (difficulty lifting the front of the foot)Decreased reflexesFatigue during physical activity
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
5 eventsNew York Stem Cell Foundation Research Institute
Pharnext S.C.A. — PHASE3
Hereditary Neuropathy Foundation
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons.
4 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons.
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 dominant Charcot-Marie-Tooth disease type 2 with giant axons.
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.What specific genetic mutation is causing my condition, and does it help predict how the disease will progress?,How often should I have follow-up appointments and nerve function testing?,What physical therapy and exercise programs are best for maintaining my strength and mobility?,Are there any medications or supplements I should avoid because they could worsen nerve damage?,Are there any clinical trials or research studies I might be eligible for?,Should my family members be tested for this condition?,What assistive devices or home modifications would help me stay independent?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
What is Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons?
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (also called CMT2 with giant axons) is a very rare inherited nerve disorder that belongs to the broader family of Charcot-Marie-Tooth (CMT) diseases. CMT diseases affect the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs in your arms and legs. In this specific form, the nerve fibers (axons) become abnormally enlarged or swollen, which is why they are called "giant axons." This swelling disrupts the normal function of the nerves, leading to progressive muscle weaknes
How is Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons?
Yes — 4 recruiting clinical trials are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.