Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2Y (CMT2Y) is a rare inherited nerve disease that belongs to a large family of conditions called Charcot-Marie-Tooth (CMT) disease. CMT diseases affect the peripheral nerves — the nerves that run from your spinal cord to your arms, legs, hands, and feet. In CMT2Y specifically, the nerve fibers themselves (called axons) are damaged over time, which is why it is classified as a 'type 2' or axonal form of the disease. People with CMT2Y typically experience slowly worsening muscle weakness and wasting, mainly in the lower legs and feet, along with reduced sensation such as numbness or tingling. The feet may develop a high arch (called pes cavus) or other deformities, and walking can become increasingly difficult. Symptoms usually begin in adulthood, though the age of onset can vary. The hands and arms may also be affected as the disease progresses. There is currently no cure for CMT2Y. Treatment focuses on managing symptoms and maintaining quality of life. This includes physical therapy, occupational therapy, orthotic devices such as ankle-foot braces, and pain management. Regular monitoring by a neurologist experienced in neuromuscular diseases is important. While CMT2Y is a lifelong condition, most people have a normal or near-normal lifespan.
Also known as:
Key symptoms:
Muscle weakness in the lower legs and feetMuscle wasting (shrinking) in the lower legs, giving a 'stork leg' appearanceHigh foot arches (pes cavus)Foot drop — difficulty lifting the front part of the foot when walkingNumbness or reduced sensation in the feet and lower legsTingling or burning sensations in the feetDifficulty walking or frequent tripping and fallsWeakness and wasting in the hands and forearms in later stagesReduced reflexes, especially at the anklesHammer toes or other foot deformitiesBalance problemsFatigue with physical activity
Clinical phenotype terms (43)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2Y.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2Y.
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 2Y.
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.Which specific change in the PLEKHG5 gene do I have, and what does that mean for how my disease might progress?,Should my family members be tested for this condition, and if so, who should be tested first?,Are there any medications, supplements, or anesthetics I should avoid because they could worsen my nerve damage?,What type of physical therapy program is best for my current level of symptoms?,Are there any clinical trials for CMT2Y or related conditions that I might be eligible for?,How often should I have nerve conduction studies or other tests to monitor disease progression?,What signs should prompt me to seek urgent medical attention?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2Y
What is Autosomal dominant Charcot-Marie-Tooth disease type 2Y?
Autosomal dominant Charcot-Marie-Tooth disease type 2Y (CMT2Y) is a rare inherited nerve disease that belongs to a large family of conditions called Charcot-Marie-Tooth (CMT) disease. CMT diseases affect the peripheral nerves — the nerves that run from your spinal cord to your arms, legs, hands, and feet. In CMT2Y specifically, the nerve fibers themselves (called axons) are damaged over time, which is why it is classified as a 'type 2' or axonal form of the disease. People with CMT2Y typically experience slowly worsening muscle weakness and wasting, mainly in the lower legs and feet, along wi
How is Autosomal dominant Charcot-Marie-Tooth disease type 2Y inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2Y follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant Charcot-Marie-Tooth disease type 2Y typically begin?
Typical onset of Autosomal dominant Charcot-Marie-Tooth disease type 2Y is adult. Age of onset can vary across affected individuals.