Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2W (CMT2W) is a rare inherited nerve disease that belongs to a large family of conditions called Charcot-Marie-Tooth (CMT) disease. It is also sometimes referred to as CMT2W or axonal CMT linked to the HARS1 gene. CMT disease as a whole is one of the most common inherited nerve disorders, but CMT2W is a very rare subtype. This condition affects the peripheral nerves — the nerves that run from the spinal cord out to the arms, legs, hands, and feet. These nerves carry signals for movement and sensation. When they are damaged, muscles can become weak and waste away, and people may lose feeling or experience unusual sensations like tingling or burning. The main features of CMT2W include slowly progressive weakness and wasting of muscles, especially in the lower legs and feet, along with reduced sensation in the hands and feet. Many people develop foot deformities such as high arches or hammertoes. Balance problems and difficulty walking are also common. Symptoms usually begin in childhood or early adulthood and slowly worsen over time. There is currently no cure for CMT2W. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, orthotic devices like ankle braces, and pain management are the main tools available. A team of specialists works together to help people stay as active and independent as possible.
Key symptoms:
Muscle weakness in the lower legs and feetMuscle wasting (shrinking) in the legs and handsReduced or lost sensation in the feet and handsTingling or burning feelings in the limbsHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent trippingBalance problemsWeakness in the hands affecting gripFatigue with physical activity
Clinical phenotype terms (20)— hover any for plain English
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
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2W.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2W.
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 2W.
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 genetic testing do you recommend to confirm my diagnosis, and should other family members be tested?,How quickly do you expect my symptoms to progress, and what signs should I watch for?,What therapies or exercises will help me maintain my strength and mobility?,Are there any clinical trials for CMT2W or related conditions that I might be eligible for?,What type of orthotics or assistive devices would help me most right now?,How often should I have follow-up appointments and what monitoring tests are needed?,Are there any medications or activities I should avoid because of this condition?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2W
What is Autosomal dominant Charcot-Marie-Tooth disease type 2W?
Autosomal dominant Charcot-Marie-Tooth disease type 2W (CMT2W) is a rare inherited nerve disease that belongs to a large family of conditions called Charcot-Marie-Tooth (CMT) disease. It is also sometimes referred to as CMT2W or axonal CMT linked to the HARS1 gene. CMT disease as a whole is one of the most common inherited nerve disorders, but CMT2W is a very rare subtype. This condition affects the peripheral nerves — the nerves that run from the spinal cord out to the arms, legs, hands, and feet. These nerves carry signals for movement and sensation. When they are damaged, muscles can become
How is Autosomal dominant Charcot-Marie-Tooth disease type 2W inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2W follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.