Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2O (CMT2O) is a rare inherited nerve disorder that belongs to the larger family of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2O 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 CMT2O typically experience progressive muscle weakness and wasting, especially in the lower legs and feet, and later in the hands. This can lead to difficulty walking, foot deformities such as high arches or hammertoes, and problems with balance. Numbness or reduced sensation in the feet and hands is also common. The disease is caused by mutations in the DYNC1H1 gene, which provides instructions for making a protein important for nerve cell function and transport within nerve cells. There is currently no cure for CMT2O. Treatment focuses on managing symptoms and maintaining quality of life. This may include physical therapy, occupational therapy, orthopedic devices like braces or special shoes, and sometimes surgery to correct foot deformities. Pain management may also be needed. Research into potential disease-modifying therapies is ongoing, but as of now, supportive care remains the standard approach.
Also known as:
Key symptoms:
Muscle weakness in the lower legs and feetMuscle wasting in the legs and handsHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or tripping frequentlyNumbness or reduced feeling in the feet and handsBalance problemsWeakness in the hands and forearmsFoot drop (difficulty lifting the front of the foot)Reduced reflexesNerve pain or discomfort in the limbsFatigueDifficulty with fine motor tasks like buttoning clothes
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 2O.
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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 2O.
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 involvement based on current testing?,What physical therapy program do you recommend, and how often should sessions occur?,Are there any medications or substances I should avoid because they could worsen nerve damage?,Should other family members be tested for this genetic mutation?,What signs of progression should I watch for, and when should I come back for follow-up?,Are there any clinical trials or research studies I might be eligible for?,What assistive devices or braces would be most helpful at this stage?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2O
What is Autosomal dominant Charcot-Marie-Tooth disease type 2O?
Autosomal dominant Charcot-Marie-Tooth disease type 2O (CMT2O) is a rare inherited nerve disorder that belongs to the larger family of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2O 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 CMT2O typically experience prog
How is Autosomal dominant Charcot-Marie-Tooth disease type 2O inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2O 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 2O?
1 specialists and care centers treating Autosomal dominant Charcot-Marie-Tooth disease type 2O are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.