Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation (also called CMT2 due to TFG mutation or HMSN-P, hereditary motor and sensory neuropathy with proximal dominant involvement) is a rare inherited nerve disorder. It belongs to the Charcot-Marie-Tooth (CMT) family of diseases, which are among the most common inherited neurological conditions. This specific form is caused by a change (mutation) in the TFG gene, which provides instructions for making a protein involved in nerve cell function. The disease primarily affects the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the arms and legs. Over time, these nerves gradually break down, leading to muscle weakness and wasting, particularly in the legs and feet at first, and sometimes progressing to the hands and arms. Patients may also experience numbness, tingling, or pain in the extremities. Some individuals develop proximal muscle weakness, meaning muscles closer to the trunk of the body (such as the thighs and hips) can also be affected, which is somewhat unusual for CMT type 2. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining function through physical therapy, occupational therapy, orthotic devices (such as braces or special shoes), and pain management. The disease tends to progress slowly over many years, and the severity can vary even among family members who carry the same mutation.
Also known as:
Key symptoms:
Muscle weakness in the legs and feetMuscle wasting (loss of muscle bulk) in the lower legsWeakness in muscles closer to the trunk, such as thighs and hipsNumbness or reduced sensation in the hands and feetTingling or pins-and-needles sensationsPain in the limbsDifficulty walking or frequent trippingFoot drop (difficulty lifting the front of the foot)High-arched feet or flat feetHammer toes or other foot deformitiesReduced reflexesDifficulty with fine motor tasks like buttoning clothesMuscle crampsBalance problems
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 TFG mutation.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG 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 TFG 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.How quickly is this disease likely to progress in my case?,What physical therapy exercises are best for maintaining my strength and mobility?,Are there any clinical trials or new treatments being studied for CMT caused by TFG mutations?,Should my family members be tested for this genetic mutation?,What assistive devices or braces would help me the most right now?,How often should I have follow-up appointments and nerve function testing?,What can I do to manage pain and fatigue on a daily basis?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
What is Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation?
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation (also called CMT2 due to TFG mutation or HMSN-P, hereditary motor and sensory neuropathy with proximal dominant involvement) is a rare inherited nerve disorder. It belongs to the Charcot-Marie-Tooth (CMT) family of diseases, which are among the most common inherited neurological conditions. This specific form is caused by a change (mutation) in the TFG gene, which provides instructions for making a protein involved in nerve cell function. The disease primarily affects the peripheral nerves — the nerves that connect the
How is Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG 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 TFG mutation typically begin?
Typical onset of Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation is adult. Age of onset can vary across affected individuals.