Overview
Axonal hereditary motor and sensory neuropathy (also called axonal HMSN or axonal Charcot-Marie-Tooth disease, sometimes referred to as CMT2) is a rare inherited condition that affects the peripheral nerves — the nerves that run from your spinal cord to your arms, legs, hands, and feet. Unlike some forms of nerve disease that damage the protective coating around nerves, this type directly damages the inner core of the nerve fiber, called the axon. This makes it harder for signals to travel between your brain and your muscles and skin. The condition causes a mix of motor problems (trouble controlling muscles) and sensory problems (changes in feeling). Most people notice weakness and wasting of muscles, especially in the lower legs and feet, along with numbness, tingling, or reduced ability to feel pain and temperature. Foot deformities like high arches (pes cavus) and hammer toes are very common. Balance problems and difficulty walking are also typical. There is currently no cure for axonal HMSN. Treatment focuses on managing symptoms, maintaining mobility, and improving quality of life. Physical therapy, occupational therapy, orthotic devices (like ankle-foot braces), and pain management are the main tools available. The condition is slowly progressive in most people, meaning symptoms tend to worsen gradually over many years.
Also known as:
Key symptoms:
Muscle weakness in the feet, ankles, and lower legsMuscle wasting (shrinking) in the lower legs, giving a 'stork leg' appearanceHigh foot arches (pes cavus)Hammer toes or other foot deformitiesDifficulty walking, tripping, or foot drop (difficulty lifting the front of the foot)Numbness or reduced sensation in the feet and handsTingling or burning feelings in the hands and feetReduced ability to feel pain or temperatureBalance problems and unsteady walkingWeakness in the hands and forearms in later stagesMuscle cramps or spasmsFatigue with physical activityScoliosis (curved spine) in some cases
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsVanda Pharmaceuticals — PHASE1, PHASE2
University of Liverpool — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Axonal hereditary motor and sensory neuropathy.
1 clinical trialare 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 Axonal hereditary motor and sensory neuropathy.
Community
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Start the conversation →Latest news about Axonal hereditary motor and sensory neuropathy
Disease timeline:
New recruiting trial: Genotype/Phenotype Correlation of MORC2 Mutations
A new clinical trial is recruiting patients for Axonal hereditary motor and sensory neuropathy
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 condition, and what does that mean for how my disease will progress?,Should my family members be tested for this condition, and if so, who should be tested first?,What therapies or exercises are most important for me to start right now to protect my function?,Are there any clinical trials I might be eligible for?,What symptoms should prompt me to call you or go to the emergency room?,How often should I have nerve conduction studies or other monitoring tests?,Are there any medications or activities I should avoid because they could make my neuropathy worse?
Common questions about Axonal hereditary motor and sensory neuropathy
What is Axonal hereditary motor and sensory neuropathy?
Axonal hereditary motor and sensory neuropathy (also called axonal HMSN or axonal Charcot-Marie-Tooth disease, sometimes referred to as CMT2) is a rare inherited condition that affects the peripheral nerves — the nerves that run from your spinal cord to your arms, legs, hands, and feet. Unlike some forms of nerve disease that damage the protective coating around nerves, this type directly damages the inner core of the nerve fiber, called the axon. This makes it harder for signals to travel between your brain and your muscles and skin. The condition causes a mix of motor problems (trouble cont
Are there clinical trials for Axonal hereditary motor and sensory neuropathy?
Yes — 1 recruiting clinical trial is currently listed for Axonal hereditary motor and sensory neuropathy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Axonal hereditary motor and sensory neuropathy?
4 specialists and care centers treating Axonal hereditary motor and sensory neuropathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.