Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a very rare inherited nerve disorder that belongs to the larger family of Charcot-Marie-Tooth (CMT) diseases. CMT diseases are a group of conditions that damage the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs. In CMT2U specifically, the problem lies in the nerve fibers themselves (called axons) rather than in the protective covering around the nerves. This subtype is caused by changes (mutations) in the MARS1 gene, which provides instructions for making an enzyme important for building proteins in cells. People with CMT2U 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 reduced sensation in the hands and feet. Some individuals may also experience balance problems and fatigue. The severity of symptoms can vary widely, even among members of the same family. There is currently no cure for CMT2U. Treatment focuses on managing symptoms and maintaining quality of life. This may include physical therapy, occupational therapy, orthotic devices such as braces or special shoes, and in some cases surgery to correct foot deformities. Pain management may also be needed. Research into potential disease-modifying therapies for CMT diseases is ongoing, offering hope for future treatments.
Key symptoms:
Muscle weakness in the feet and lower legsMuscle weakness in the handsMuscle wasting (loss of muscle bulk) in the lower legsHigh foot arches (pes cavus)Hammertoes or other toe deformitiesDifficulty walking or frequent trippingReduced sensation or numbness in the feet and handsBalance problemsFatigueFoot drop (difficulty lifting the front of the foot)Decreased reflexesDifficulty with fine motor tasks like buttoning clothesNerve pain or cramping in the legs
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 2U.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal dominant Charcot-Marie-Tooth disease type 2U 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 Autosomal dominant Charcot-Marie-Tooth disease type 2U.
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 severe is my (or my child's) nerve damage based on current testing?,What medications should I avoid because they could worsen my nerve condition?,How often should I have follow-up nerve conduction studies or neurological exams?,What physical therapy exercises are most helpful for maintaining strength and mobility?,Should my family members be tested for the MARS1 gene mutation?,Are there any clinical trials or research studies I could participate in?,What assistive devices or braces would be most helpful for me right now?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2U
What is Autosomal dominant Charcot-Marie-Tooth disease type 2U?
Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a very rare inherited nerve disorder that belongs to the larger family of Charcot-Marie-Tooth (CMT) diseases. CMT diseases are a group of conditions that damage the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs. In CMT2U specifically, the problem lies in the nerve fibers themselves (called axons) rather than in the protective covering around the nerves. This subtype is caused by changes (mutations) in the MARS1 gene, which provides instructions for making an enzyme impo
How is Autosomal dominant Charcot-Marie-Tooth disease type 2U inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2U follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Autosomal dominant Charcot-Marie-Tooth disease type 2U?
1 specialists and care centers treating Autosomal dominant Charcot-Marie-Tooth disease type 2U are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.