Overview
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (also called CMT-DIF or CMTDIF) is a rare inherited nerve disorder that affects both the peripheral nerves and sometimes the central nervous system. It belongs to the Charcot-Marie-Tooth (CMT) family of diseases, which are among the most common inherited neurological conditions. The term 'intermediate' means that nerve conduction studies show features that fall between the two classic CMT types — the demyelinating form (CMT1, where the nerve insulation is damaged) and the axonal form (CMT2, where the nerve fibers themselves are damaged). This disease is caused by mutations in the GNB4 gene. People with CMT-DIF typically develop progressive weakness and wasting of the muscles in the feet, lower legs, hands, and forearms. Over time, this can lead to difficulty walking, foot deformities such as high arches or hammertoes, and problems with fine motor tasks like buttoning clothes or writing. Some individuals may also experience numbness or reduced sensation in the hands and feet. The severity can vary widely, even among members of the same family. There is currently no cure for CMT-DIF. Treatment focuses on managing symptoms and maintaining function. This may include physical therapy, occupational therapy, orthotic devices such as ankle-foot braces, and sometimes surgery to correct foot deformities. Pain management may also be needed. Research into disease-modifying therapies for CMT diseases is ongoing, but no specific drug treatments are currently approved for this condition.
Also known as:
Key symptoms:
Weakness in the feet and lower legsWeakness in the hands and forearmsMuscle wasting in the lower legs and handsHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent trippingNumbness or tingling in the hands and feetReduced reflexesDifficulty with fine motor tasks like writing or buttoningFoot drop (difficulty lifting the front of the foot)Balance problemsFatigue in the limbsMild to moderate sensory loss
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 intermediate Charcot-Marie-Tooth disease type F.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F.
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 intermediate Charcot-Marie-Tooth disease type F.
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 the nerve conduction studies?,What specific GNB4 mutation was found, and does it tell us anything about how the disease might progress?,What medications should I avoid because they could worsen nerve damage?,How often should I have follow-up nerve conduction studies or neurological exams?,What physical therapy and exercise programs would be most helpful?,Should other family members be tested for this genetic mutation?,Are there any clinical trials or research studies I could participate in?
Common questions about Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
What is Autosomal dominant intermediate Charcot-Marie-Tooth disease type F?
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (also called CMT-DIF or CMTDIF) is a rare inherited nerve disorder that affects both the peripheral nerves and sometimes the central nervous system. It belongs to the Charcot-Marie-Tooth (CMT) family of diseases, which are among the most common inherited neurological conditions. The term 'intermediate' means that nerve conduction studies show features that fall between the two classic CMT types — the demyelinating form (CMT1, where the nerve insulation is damaged) and the axonal form (CMT2, where the nerve fibers themselves are
How is Autosomal dominant intermediate Charcot-Marie-Tooth disease type F inherited?
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.