Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2 (also called CMT2 or hereditary motor and sensory neuropathy type 2, HMSN II) is a inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. Unlike the more common CMT type 1, which damages the protective myelin sheath around nerves, CMT2 directly damages the nerve fibers themselves (called axons). This means signals between the brain and the muscles and skin travel poorly or not at all. The disease mainly affects the legs and arms, causing muscle weakness and wasting, especially in the lower legs and feet. People often notice foot deformities like high arches (pes cavus) or hammer toes. Numbness, tingling, and reduced ability to feel pain, heat, or cold are also common. Symptoms usually begin in the teens or early adulthood, though this varies widely. There is currently no cure for CMT2. Treatment focuses on managing symptoms, maintaining mobility through physical and occupational therapy, and using assistive devices like braces or orthotics. Pain management and regular monitoring by a neurologist are important parts of care. Most people with CMT2 have a normal life expectancy, though the disease can significantly affect quality of life and independence over time.
Also known as:
Key symptoms:
Muscle weakness in the lower legs and feetMuscle wasting (shrinking) in the lower legs, giving a 'stork leg' appearanceHigh foot arches (pes cavus)Hammer toes or other foot deformitiesDifficulty lifting the front of the foot (foot drop)Numbness or reduced sensation in the feet and handsTingling or burning sensations in the limbsReduced ability to feel pain, heat, or coldWeakness in the hands and forearms in later stagesBalance problems and frequent tripping or fallingReduced or absent reflexes at the ankles and kneesFatigue with walking or physical activityScoliosis (curved spine) in some casesMild hearing loss in some genetic subtypes
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
FDA & Trial Timeline
3 eventsHaydarpasa Numune Training and Research Hospital
University of Iowa
Michael Shy
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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.
Community
No community posts yet. Be the first to share your experience with Autosomal dominant Charcot-Marie-Tooth disease type 2.
Start the conversation →Latest news about Autosomal dominant Charcot-Marie-Tooth disease type 2
Disease timeline:
New recruiting trial: Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
A new clinical trial is recruiting patients for Autosomal dominant Charcot-Marie-Tooth disease type 2
New recruiting trial: Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
A new clinical trial is recruiting patients for Autosomal dominant Charcot-Marie-Tooth disease type 2
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 gene is causing my CMT2, and how does that affect my expected disease course?,How quickly is my condition likely to progress, and what signs should I watch for?,What therapies or exercises are most helpful for my current level of symptoms?,Should my children or other family members be tested for this condition?,Are there any clinical trials I might be eligible for?,What specialists should be part of my care team, and how often should I be seen?,Are there any medications or activities I should avoid that could worsen nerve damage?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2
What is Autosomal dominant Charcot-Marie-Tooth disease type 2?
Autosomal dominant Charcot-Marie-Tooth disease type 2 (also called CMT2 or hereditary motor and sensory neuropathy type 2, HMSN II) is a inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. Unlike the more common CMT type 1, which damages the protective myelin sheath around nerves, CMT2 directly damages the nerve fibers themselves (called axons). This means signals between the brain and the muscles and skin travel poorly or not at all. The disease mainly affects the legs and arms, causing muscle weakness and wasting, especially in
How is Autosomal dominant Charcot-Marie-Tooth disease type 2 inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Autosomal dominant Charcot-Marie-Tooth disease type 2?
Yes — 2 recruiting clinical trials are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Autosomal dominant Charcot-Marie-Tooth disease type 2?
2 specialists and care centers treating Autosomal dominant Charcot-Marie-Tooth disease type 2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.