Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2V (CMT2V) is a rare inherited nerve disorder that belongs to the broader group of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2V specifically affects the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs in your arms and legs. It is classified as an axonal type (type 2), meaning the damage primarily occurs in the nerve fibers themselves rather than in the protective covering around them. People with CMT2V 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 problems with balance. Sensory symptoms like numbness or reduced ability to feel temperature and pain in the hands and feet are also common. The disease is caused by mutations in the NAGLU gene and follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene is needed to cause the condition. There is currently no cure for CMT2V. Treatment focuses on managing symptoms and maintaining function through physical therapy, occupational therapy, orthotic devices such as ankle-foot braces, and sometimes surgery to correct foot deformities. Pain management may also be needed. Research into potential disease-modifying therapies is ongoing across the broader CMT field.
Also known as:
Key symptoms:
Muscle weakness in the feet and lower legsMuscle weakness in the handsMuscle wasting in the lower legs, giving a 'stork leg' appearanceHigh foot archesHammertoes or curled toesDifficulty walking or frequent trippingFoot drop (difficulty lifting the front of the foot)Numbness or tingling in the hands and feetReduced ability to feel pain or temperature changesBalance problemsDecreased reflexesHand clumsiness or difficulty with fine motor tasksFatigueMuscle cramps
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 2V.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2V.
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 2V.
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 quickly is this disease likely to progress in my case?,What medications should I avoid because they could worsen my nerve damage?,What types of physical therapy and exercises are best for maintaining my strength?,Should my family members be tested for this genetic mutation?,Are there any clinical trials or emerging treatments I should know about?,When should I consider using braces or other assistive devices?,How often should I have follow-up appointments and nerve function testing?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2V
What is Autosomal dominant Charcot-Marie-Tooth disease type 2V?
Autosomal dominant Charcot-Marie-Tooth disease type 2V (CMT2V) is a rare inherited nerve disorder that belongs to the broader group of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2V specifically affects the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs in your arms and legs. It is classified as an axonal type (type 2), meaning the damage primarily occurs in the nerve fibers themselves rather than in the protective covering around them. People with CMT2V typically experience prog
How is Autosomal dominant Charcot-Marie-Tooth disease type 2V inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2V follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.