Overview
Charcot-Marie-Tooth disease type 2P (CMT2P) is a rare inherited nerve disorder that belongs to the larger family of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2P specifically affects the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the arms and legs. It is classified as an "axonal" type (type 2), meaning the damage primarily occurs in the nerve fibers themselves rather than in the protective covering around them. People with CMT2P typically experience progressive muscle weakness and wasting, especially in the feet, lower legs, and hands. Over time, this can lead to difficulty walking, foot deformities such as high arches or hammertoes, and problems with balance. Numbness or reduced sensation in the hands and feet is also common. The disease is caused by mutations in the LRSAM1 gene, which plays a role in maintaining healthy nerve cells. There is currently no cure for CMT2P. Treatment focuses on managing symptoms and maintaining quality of life. This may include physical therapy, occupational therapy, braces or orthotic devices to support weakened limbs, and in some cases surgery to correct foot deformities. Pain management may also be needed. Research into potential disease-modifying therapies for CMT diseases is ongoing, but no specific targeted treatments are yet available for CMT2P.
Also known as:
Key symptoms:
Muscle weakness in the feet and lower legsMuscle weakness in the handsMuscle wasting (loss of muscle bulk) in the lower legsHigh arched feet (pes cavus)HammertoesDifficulty walking or frequent trippingFoot drop (difficulty lifting the front of the foot)Numbness or reduced sensation in the hands and feetBalance problemsDecreased reflexesPain in the legs or feetDifficulty with fine motor tasks like buttoning clothes
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Charcot-Marie-Tooth disease type 2P.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Charcot-Marie-Tooth disease type 2P at this time.
New trials open frequently. Follow this disease to get notified.
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 2P.
Community
No community posts yet. Be the first to share your experience with Charcot-Marie-Tooth disease type 2P.
Start the conversation →Latest news about Charcot-Marie-Tooth disease type 2P
No recent news articles for Charcot-Marie-Tooth disease type 2P.
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.What is the specific LRSAM1 mutation I have, and is it inherited in a dominant or recessive pattern?,How quickly might my symptoms progress, and what should I watch for?,Which medications should I avoid because they could worsen my nerve damage?,What physical therapy and exercise programs would be most helpful for me?,Should my family members be tested for this condition?,Are there any clinical trials or research studies I could participate in?,When should I consider using braces, orthotics, or other assistive devices?
Common questions about Charcot-Marie-Tooth disease type 2P
What is Charcot-Marie-Tooth disease type 2P?
Charcot-Marie-Tooth disease type 2P (CMT2P) is a rare inherited nerve disorder that belongs to the larger family of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2P specifically affects the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the arms and legs. It is classified as an "axonal" type (type 2), meaning the damage primarily occurs in the nerve fibers themselves rather than in the protective covering around them. People with CMT2P typically experience progressive muscle weakn
Which specialists treat Charcot-Marie-Tooth disease type 2P?
1 specialists and care centers treating Charcot-Marie-Tooth disease type 2P are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.