Overview
PMP2-related Charcot-Marie-Tooth disease type 1 (also called CMT1 caused by PMP2 mutations, or PMP2-CMT1) 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 of the arms and legs. In this condition, a change (mutation) in the PMP2 gene causes problems with myelin, the protective coating that wraps around nerve fibers and helps them send signals quickly and efficiently. When myelin is damaged or made incorrectly, nerve signals slow down or fail to reach their destination properly. The disease mainly causes slowly progressive muscle weakness and wasting, starting in the feet and lower legs and gradually moving upward. People often notice difficulty walking, foot deformities like high arches or hammertoes, and reduced sensation or numbness in the feet and hands. Balance problems are also common. Symptoms usually begin in childhood or early adulthood. There is currently no cure for PMP2-related CMT1. Treatment focuses on managing symptoms, maintaining mobility, and improving quality of life through physical therapy, occupational therapy, orthotic devices, and pain management. With the right support, many people with this condition can lead active and fulfilling lives, though the disease tends to progress slowly over time.
Also known as:
Key symptoms:
Muscle weakness in the feet and lower legsMuscle wasting (shrinking) in the lower legs, sometimes called 'inverted champagne bottle' legsHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent tripping and fallingReduced or absent reflexes, especially at the anklesNumbness or reduced sensation in the feet and handsTingling or unusual sensations in the limbsWeakness in the hands and forearms in later stagesBalance and coordination problemsFatigue with physical activitySlow nerve conduction speeds on nerve tests
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for PMP2-related Charcot-Marie-Tooth disease type 1.
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Specialists
View all specialists →No specialists are currently listed for PMP2-related Charcot-Marie-Tooth disease type 1.
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 PMP2-related Charcot-Marie-Tooth disease type 1.
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 mutation was found in my PMP2 gene, and what does that mean for how my disease might progress?,Should other members of my family be tested for this condition?,What type of physical therapy program is best for my current level of weakness?,Do I need custom braces or orthotics, and how often should they be updated?,Are there any clinical trials or research studies I might be eligible to join?,How often should I have nerve conduction studies or other tests to monitor disease progression?,What symptoms should prompt me to seek urgent medical attention?
Common questions about PMP2-related Charcot-Marie-Tooth disease type 1
What is PMP2-related Charcot-Marie-Tooth disease type 1?
PMP2-related Charcot-Marie-Tooth disease type 1 (also called CMT1 caused by PMP2 mutations, or PMP2-CMT1) 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 of the arms and legs. In this condition, a change (mutation) in the PMP2 gene causes problems with myelin, the protective coating that wraps around nerve fibers and helps them send signals quickly and efficiently. When myelin is damaged or made incorrectly, nerve signals slow down or fai
How is PMP2-related Charcot-Marie-Tooth disease type 1 inherited?
PMP2-related Charcot-Marie-Tooth disease type 1 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PMP2-related Charcot-Marie-Tooth disease type 1 typically begin?
Typical onset of PMP2-related Charcot-Marie-Tooth disease type 1 is childhood. Age of onset can vary across affected individuals.