Overview
Charcot-Marie-Tooth disease type 2T (CMT2T) is a rare inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. It belongs to a large family of conditions called Charcot-Marie-Tooth (CMT) disease, which are among the most common inherited nerve disorders. CMT2T specifically is caused by changes (mutations) in the HARS1 gene, which provides instructions for making an enzyme involved in building proteins inside cells. When this gene does not work properly, the nerve fibers that carry signals to and from the muscles and skin become damaged over time. People with CMT2T typically experience slowly progressive weakness and wasting of the muscles in the feet, lower legs, hands, and forearms. Sensory problems such as numbness, tingling, and reduced ability to feel pain or temperature are also common. Many people develop foot deformities like high arches (pes cavus) or hammertoes. Balance and coordination can be affected, increasing the risk of falls. There is currently no cure for CMT2T. Treatment focuses on managing symptoms, maintaining mobility, and improving quality of life through physical therapy, occupational therapy, orthotic devices, and pain management. With the right support, many people with CMT2T can lead active and fulfilling lives, though the disease tends to progress slowly over decades.
Key symptoms:
Muscle weakness in the feet and lower legsMuscle weakness in the hands and forearmsMuscle wasting (shrinking) in the lower legs and handsNumbness or reduced 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 problemsReduced ability to feel pain or temperatureFoot drop (difficulty lifting the front part of the foot)Fatigue with physical activity
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 Charcot-Marie-Tooth disease type 2T.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Charcot-Marie-Tooth disease type 2T at this time.
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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 2T.
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 mutation in the HARS1 gene do I have, and what does that mean for my prognosis?,Should other family members be tested for this condition?,What type of physical therapy program is best for my current level of symptoms?,Are there any clinical trials for CMT2T or related forms of CMT that I might be eligible for?,What warning signs should prompt me to contact you between appointments?,Are there any medications I should avoid because they can worsen nerve damage in CMT?,What specialists should be part of my care team, and how often should I be seen?
Common questions about Charcot-Marie-Tooth disease type 2T
What is Charcot-Marie-Tooth disease type 2T?
Charcot-Marie-Tooth disease type 2T (CMT2T) is a rare inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. It belongs to a large family of conditions called Charcot-Marie-Tooth (CMT) disease, which are among the most common inherited nerve disorders. CMT2T specifically is caused by changes (mutations) in the HARS1 gene, which provides instructions for making an enzyme involved in building proteins inside cells. When this gene does not work properly, the nerve fibers that carry signals to and from the muscles and skin become damaged
How is Charcot-Marie-Tooth disease type 2T inherited?
Charcot-Marie-Tooth disease type 2T follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Charcot-Marie-Tooth disease type 2T typically begin?
Typical onset of Charcot-Marie-Tooth disease type 2T is adult. Age of onset can vary across affected individuals.
Which specialists treat Charcot-Marie-Tooth disease type 2T?
1 specialists and care centers treating Charcot-Marie-Tooth disease type 2T are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.