Overview
DNAJB2-related Charcot-Marie-Tooth disease type 2 (also called CMT2 caused by DNAJB2 mutations, or sometimes referred to as DNAJB2-CMT) is a rare inherited nerve disease that affects the peripheral nervous system — the network of nerves outside the brain and spinal cord. These nerves carry signals between the brain and the muscles and skin, especially in the arms and legs. When the DNAJB2 gene does not work properly, nerve fibers gradually break down over time, leading to muscle weakness and loss of sensation. The most common symptoms include weakness and wasting of the muscles in the feet, lower legs, hands, and forearms. People often notice difficulty walking, foot deformities such as high arches or hammertoes, and reduced ability to feel touch, pain, or temperature in the hands and feet. Balance problems are also common. Symptoms usually begin in childhood, adolescence, or early adulthood and slowly get worse over many years. There is currently no cure for DNAJB2-related CMT2. 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. A team of specialists works together to help people stay as active and independent as possible. While the disease is slowly progressive, most people have a normal or near-normal lifespan.
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 trippingReduced or absent reflexes, especially at the anklesNumbness or reduced sensation in the feet and handsDifficulty feeling temperature or pain in the extremitiesBalance problems and unsteady gaitFatigue with physical activityDifficulty with fine hand movements such as buttoning clothes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for DNAJB2-related Charcot-Marie-Tooth disease type 2.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for DNAJB2-related Charcot-Marie-Tooth disease type 2 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for DNAJB2-related Charcot-Marie-Tooth disease type 2.
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 DNAJB2-related Charcot-Marie-Tooth disease type 2.
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 specific change was found in my DNAJB2 gene, and what does it mean for my health?,How quickly is my condition likely to progress, and what signs should I watch for?,Should other family members be tested for this gene change?,What therapies or devices would help me most right now?,Are there any clinical trials I might be eligible for?,What specialists should be part of my care team, and how often should I be seen?,Are there any activities or medications I should avoid because of my condition?
Common questions about DNAJB2-related Charcot-Marie-Tooth disease type 2
What is DNAJB2-related Charcot-Marie-Tooth disease type 2?
DNAJB2-related Charcot-Marie-Tooth disease type 2 (also called CMT2 caused by DNAJB2 mutations, or sometimes referred to as DNAJB2-CMT) is a rare inherited nerve disease that affects the peripheral nervous system — the network of nerves outside the brain and spinal cord. These nerves carry signals between the brain and the muscles and skin, especially in the arms and legs. When the DNAJB2 gene does not work properly, nerve fibers gradually break down over time, leading to muscle weakness and loss of sensation. The most common symptoms include weakness and wasting of the muscles in the feet, l
How is DNAJB2-related Charcot-Marie-Tooth disease type 2 inherited?
DNAJB2-related Charcot-Marie-Tooth disease type 2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.