Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) is a very rare inherited nerve disorder that belongs to the broader group of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2Q specifically affects the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the 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 CMT2Q 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 extremities. The disease tends to worsen slowly over years. Some individuals may also experience pain or cramping in the affected limbs. There is currently no cure for CMT2Q. Treatment focuses on managing symptoms and maintaining function. 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, but no specific targeted treatment is yet available for CMT2Q.
Also known as:
Key symptoms:
Muscle weakness in the feet and lower legsMuscle weakness in the handsMuscle wasting in the lower legs and feetHigh foot archesHammertoes or curled toesDifficulty walking or frequent trippingFoot drop (difficulty lifting the front of the foot)Reduced sensation or numbness in the hands and feetPain or cramping in the legsDifficulty with fine motor tasks like buttoning clothesBalance problemsDecreased reflexes
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
FDA & Trial Timeline
1 eventIRCCS San Raffaele — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2Q.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 2Q.
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 would be most beneficial?,Are there any medications I should avoid because they could worsen nerve damage?,How often should I have follow-up nerve conduction studies or clinical evaluations?,Should other family members be tested for the DHTKD1 gene mutation?,Are there any clinical trials or research studies I could participate in?,What signs of progression should I watch for and report?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2Q
What is Autosomal dominant Charcot-Marie-Tooth disease type 2Q?
Autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) is a very rare inherited nerve disorder that belongs to the broader group of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2Q specifically affects the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the 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 CMT2Q typically experience
How is Autosomal dominant Charcot-Marie-Tooth disease type 2Q inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2Q follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Autosomal dominant Charcot-Marie-Tooth disease type 2Q?
Yes — 1 recruiting clinical trial is currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2Q on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Autosomal dominant Charcot-Marie-Tooth disease type 2Q?
1 specialists and care centers treating Autosomal dominant Charcot-Marie-Tooth disease type 2Q are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.