Overview
Charcot-Marie-Tooth disease type 2S (CMT2S) is a rare inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. It belongs to a large family of conditions called Charcot-Marie-Tooth (CMT) disease, which are among the most common inherited nerve disorders. CMT2S specifically is caused by changes (mutations) in the IGHMBP2 gene, which affects how nerve cells survive and function. This type is sometimes referred to as CMT2S/IGHMBP2-related neuropathy. The disease mainly damages the motor nerves (which control movement) and sensory nerves (which carry feelings like touch and pain) in the arms and legs. Over time, this leads to muscle weakness, muscle wasting, and reduced sensation, especially in the hands and feet. Some people also experience breathing difficulties because the nerves controlling breathing muscles can be affected. There is currently no cure for CMT2S. Treatment focuses on managing symptoms, maintaining mobility, and supporting quality of life through physical therapy, occupational therapy, orthotics, and breathing support when needed. With the right care team and support, many people with CMT2S can manage their symptoms and maintain meaningful independence.
Also known as:
Key symptoms:
Muscle weakness in the hands and feetMuscle wasting (shrinking) in the lower legs and handsReduced or lost sensation in the feet and handsDifficulty walking or frequent trippingHigh-arched feet (pes cavus) or flat feetFoot drop (difficulty lifting the front part of the foot)Reduced reflexes or absent reflexesBreathing difficulties due to weak breathing musclesFatigue and low staminaScoliosis (curved spine) in some casesDifficulty with fine motor tasks like buttoning clothes or writing
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 2S.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Charcot-Marie-Tooth disease type 2S at this time.
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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 2S.
Community
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Start the conversation →Latest news about Charcot-Marie-Tooth disease type 2S
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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.How severe is my (or my child's) nerve damage based on current test results, and what does that mean for the future?,Should I have breathing tests done, and how often should breathing be monitored?,What physical and occupational therapies do you recommend, and how often should we attend?,Are there any clinical trials for CMT2S or IGHMBP2-related conditions that I should know about?,Should other family members be tested for the IGHMBP2 gene mutation?,What warning signs should prompt me to seek emergency care?,Are there any medications or activities I should avoid that could worsen nerve damage?
Common questions about Charcot-Marie-Tooth disease type 2S
What is Charcot-Marie-Tooth disease type 2S?
Charcot-Marie-Tooth disease type 2S (CMT2S) is a rare inherited nerve disease that affects the peripheral nervous system — the nerves outside the brain and spinal cord. It belongs to a large family of conditions called Charcot-Marie-Tooth (CMT) disease, which are among the most common inherited nerve disorders. CMT2S specifically is caused by changes (mutations) in the IGHMBP2 gene, which affects how nerve cells survive and function. This type is sometimes referred to as CMT2S/IGHMBP2-related neuropathy. The disease mainly damages the motor nerves (which control movement) and sensory nerves (
How is Charcot-Marie-Tooth disease type 2S inherited?
Charcot-Marie-Tooth disease type 2S 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 2S typically begin?
Typical onset of Charcot-Marie-Tooth disease type 2S is childhood. Age of onset can vary across affected individuals.
Which specialists treat Charcot-Marie-Tooth disease type 2S?
1 specialists and care centers treating Charcot-Marie-Tooth disease type 2S are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.