Overview
Charcot-Marie-Tooth disease type 4 (CMT4) is a rare, inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. It belongs to a larger family of conditions called Charcot-Marie-Tooth disease (CMT), sometimes also called hereditary motor and sensory neuropathy (HMSN). CMT4 is specifically the autosomal recessive group of CMT, meaning a child must inherit a faulty gene copy from both parents to develop the condition. CMT4 damages the protective coating around nerves (called myelin) or the nerve fibers themselves, making it harder for signals to travel between the brain and the muscles and skin. This leads to progressive muscle weakness and wasting, especially in the feet, legs, and hands, along with reduced ability to feel touch, pain, or temperature. Many people develop foot deformities such as high arches or flat feet, and some need walking aids or wheelchairs over time. CMT4 includes several subtypes (such as CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, and others), each caused by a different gene mutation and with slightly different features. Symptoms often begin in childhood and tend to be more severe than other CMT types. There is currently no cure, but physical therapy, orthotics, pain management, and supportive care can meaningfully improve quality of life.
Key symptoms:
Progressive muscle weakness in the feet and lower legsMuscle weakness in the hands and forearmsMuscle wasting (muscles becoming smaller over time)High arches or flat feet (foot deformities)Difficulty walking or frequent tripping and fallsReduced ability to feel touch, pain, or temperature in the feet and handsScoliosis (curved spine) in some subtypesHearing loss (particularly in CMT4D subtype)Breathing difficulties in severe cases due to respiratory muscle weaknessEnlarged nerves that can sometimes be felt under the skinFatigue with physical activityLoss of reflexes (especially ankle reflexes)Glaucoma or eye problems (in CMT4B2 subtype)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Charcot-Marie-Tooth disease type 4.
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View all trials with filters →No actively recruiting trials found for Charcot-Marie-Tooth disease type 4 at this time.
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Specialists
View all specialists →No specialists are currently listed for Charcot-Marie-Tooth disease type 4.
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 Charcot-Marie-Tooth disease type 4.
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.Which specific subtype of CMT4 do I have, and which gene mutation is responsible?,What is the likely progression of my condition, and what changes should I watch for?,Are there any medications I must avoid because they could make my nerve damage worse?,What therapies or braces would help me most right now, and how often should I have them reviewed?,Should my family members be tested, and what does this diagnosis mean for my children or siblings?,Are there any clinical trials or research studies I might be eligible to join?,How often should I have my breathing and other functions monitored, and when would I need additional support?
Common questions about Charcot-Marie-Tooth disease type 4
What is Charcot-Marie-Tooth disease type 4?
Charcot-Marie-Tooth disease type 4 (CMT4) is a rare, inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. It belongs to a larger family of conditions called Charcot-Marie-Tooth disease (CMT), sometimes also called hereditary motor and sensory neuropathy (HMSN). CMT4 is specifically the autosomal recessive group of CMT, meaning a child must inherit a faulty gene copy from both parents to develop the condition. CMT4 damages the protective coating around nerves (called myelin) or the nerve fibers themselves, making it harder for signa
How is Charcot-Marie-Tooth disease type 4 inherited?
Charcot-Marie-Tooth disease type 4 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Charcot-Marie-Tooth disease type 4 typically begin?
Typical onset of Charcot-Marie-Tooth disease type 4 is childhood. Age of onset can vary across affected individuals.