Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation (also called CMT2-DGAT2 or DGAT2-related CMT2) is a rare inherited nerve disease that affects the peripheral nervous system — the network of nerves outside the brain and spinal cord. It belongs to a large family of conditions called Charcot-Marie-Tooth disease (CMT), which are among the most common inherited nerve disorders overall, though this specific subtype caused by changes in the DGAT2 gene is very rare. The disease mainly damages the axons — the long, wire-like parts of nerve cells that carry signals between the brain, spinal cord, muscles, and skin. Over time, this damage leads to muscle weakness and wasting, especially in the feet, lower legs, hands, and forearms. People often notice difficulty walking, foot deformities like high arches or hammertoes, and reduced ability to feel sensations such as touch, pain, or temperature in the hands and feet. There is currently no cure for CMT2-DGAT2. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, orthotic devices such as ankle-foot braces, and pain management are the main tools available. Most people with this condition have a normal life expectancy, but the disease can slowly progress and affect independence and daily activities over time.
Also known as:
Key symptoms:
Muscle weakness in the feet and lower legsMuscle weakness in the hands and forearmsMuscle wasting (shrinking) in the lower legs and feetHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent tripping and fallsReduced ability to feel touch, pain, or temperature in the feet and handsNumbness or tingling in the hands and feetDecreased reflexes, especially at the anklesFoot drop (difficulty lifting the front part of the foot when walking)
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 2 due to DGAT2 mutation.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation.
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 2 due to DGAT2 mutation.
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.What genetic testing do you recommend to confirm my diagnosis, and should my family members be tested?,How quickly do you expect my symptoms to progress, and what signs should I watch for?,What therapies or devices would help me most right now to stay mobile and independent?,Are there any clinical trials for CMT2 or DGAT2-related disease that I might be eligible for?,What pain management options are available if I develop nerve pain?,Should I see any other specialists, such as an orthopaedic surgeon or rehabilitation doctor?,What lifestyle changes — such as exercise or activity modifications — would be most helpful for me?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
What is Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation?
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation (also called CMT2-DGAT2 or DGAT2-related CMT2) is a rare inherited nerve disease that affects the peripheral nervous system — the network of nerves outside the brain and spinal cord. It belongs to a large family of conditions called Charcot-Marie-Tooth disease (CMT), which are among the most common inherited nerve disorders overall, though this specific subtype caused by changes in the DGAT2 gene is very rare. The disease mainly damages the axons — the long, wire-like parts of nerve cells that carry signals between th
How is Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation 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 2 due to DGAT2 mutation typically begin?
Typical onset of Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation is adult. Age of onset can vary across affected individuals.