Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation (also called CMT2 due to KIF5A or CMT2-KIF5A) is a rare inherited nerve disorder that affects the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs. It belongs to the CMT type 2 group, which means the problem lies in the nerve fibers (axons) themselves rather than in the protective covering around them. The KIF5A gene provides instructions for making a protein called kinesin heavy chain, which acts like a tiny motor that transports important materials along nerve cells. When this gene is mutated, the transport system doesn't work properly, and nerve cells gradually lose their ability to function, especially the longest nerves that reach the hands and feet. People with this condition typically notice progressive weakness and wasting of muscles in the lower legs and feet, often leading to difficulty walking, foot deformities such as high arches or hammertoes, and reduced sensation. Over time, the hands and forearms may also become affected. Symptoms usually begin in childhood or adolescence but can vary. Some individuals may also experience stiffness or spasticity in the legs. The disease tends to worsen slowly over many years. There is currently no cure for this form of CMT. Treatment focuses on managing symptoms and maintaining function. Physical therapy, occupational therapy, orthotic devices such as ankle-foot braces, and sometimes surgery for foot deformities are the main approaches. Pain management may also be needed. Research into gene-based therapies and other disease-modifying treatments is ongoing but not yet available for routine clinical use.
Also known as:
Key symptoms:
Weakness in the feet and lower legsMuscle wasting in the lower legsHigh foot arches (pes cavus)HammertoesDifficulty walking or frequent trippingFoot drop (trouble lifting the front of the foot)Numbness or reduced sensation in the feet and handsWeakness in the hands and forearmsLoss of balanceLeg stiffness or spasticityDecreased reflexesTingling or burning sensations in the extremitiesDifficulty with fine motor tasks like buttoning clothesFatigue
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 2 due to KIF5A mutation.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A 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 KIF5A mutation.
Community
No community posts yet. Be the first to share your experience with Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation.
Start the conversation →Latest news about Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
No recent news articles for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation.
Follow this condition to be notified when news becomes available.
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 quickly is this condition likely to progress in my case or my child's case?,What physical therapy exercises are most helpful for maintaining strength and mobility?,Are there any medications or supplements I should avoid because they could worsen nerve damage?,Should other family members be tested for the KIF5A mutation?,What assistive devices or braces would be most helpful right now?,Are there any clinical trials or research studies I could participate in?,How often should I have follow-up appointments and nerve function testing?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
What is Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation?
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation (also called CMT2 due to KIF5A or CMT2-KIF5A) is a rare inherited nerve disorder that affects the peripheral nerves — the nerves that connect your brain and spinal cord to your muscles and sensory organs. It belongs to the CMT type 2 group, which means the problem lies in the nerve fibers (axons) themselves rather than in the protective covering around them. The KIF5A gene provides instructions for making a protein called kinesin heavy chain, which acts like a tiny motor that transports important materials along nerve
How is Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.