Overview
MME-related autosomal dominant Charcot-Marie-Tooth disease type 2 (also called CMT2T or MME-CMT2) is a rare inherited nerve disease that belongs to the Charcot-Marie-Tooth (CMT) family of disorders. CMT diseases are among the most common inherited nerve conditions, but this specific type caused by changes in the MME gene is quite rare. The disease affects the peripheral nerves — the nerves that run from your spinal cord to your arms, legs, hands, and feet. Over time, these nerves become damaged and stop working as well as they should. The main problems people experience are muscle weakness and wasting, especially in the lower legs and feet, along with reduced ability to feel touch, pain, heat, or cold in the hands and feet. Many people develop foot deformities such as high arches or hammertoes. Balance problems and difficulty walking are also common. Symptoms usually begin in adulthood, though the age when they start can vary from person to person. Right now, there is no cure for MME-related CMT2. Treatment focuses on managing symptoms, maintaining strength and mobility through physical and occupational therapy, and using supportive devices like ankle braces or orthotics. Pain management and regular monitoring by a neurologist are important parts of care. Research into CMT diseases is ongoing, and gene-targeted therapies are being explored for the broader CMT family of conditions.
Also known as:
Key symptoms:
Muscle weakness in the lower legs and feetMuscle wasting (shrinking) in the lower legs, giving a 'stork leg' appearanceNumbness or reduced sensation in the feet and handsTingling or burning feelings in the feet and handsHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent tripping and fallsBalance problemsWeakness in the hands and forearms in some peopleReduced ability to feel heat, cold, or pain in the limbsFatigue with physical activity
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for MME-related autosomal dominant Charcot Marie Tooth disease type 2.
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Specialists
View all specialists →No specialists are currently listed for MME-related autosomal dominant Charcot Marie Tooth disease type 2.
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 MME-related autosomal dominant Charcot Marie Tooth disease type 2.
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 genetic testing do you recommend to confirm my diagnosis, and should my family members be tested?,How quickly do you expect my symptoms to progress, and what signs should I watch for?,What physical therapy program would you recommend to help me maintain strength and mobility?,Are there any clinical trials for CMT2 that I might be eligible to join?,What type of bracing or orthotics would help me most right now?,How often should I have nerve conduction studies or other monitoring tests?,Are there any medications or supplements I should avoid because they can worsen nerve damage?
Common questions about MME-related autosomal dominant Charcot Marie Tooth disease type 2
What is MME-related autosomal dominant Charcot Marie Tooth disease type 2?
MME-related autosomal dominant Charcot-Marie-Tooth disease type 2 (also called CMT2T or MME-CMT2) is a rare inherited nerve disease that belongs to the Charcot-Marie-Tooth (CMT) family of disorders. CMT diseases are among the most common inherited nerve conditions, but this specific type caused by changes in the MME gene is quite rare. The disease affects the peripheral nerves — the nerves that run from your spinal cord to your arms, legs, hands, and feet. Over time, these nerves become damaged and stop working as well as they should. The main problems people experience are muscle weakness an
How is MME-related autosomal dominant Charcot Marie Tooth disease type 2 inherited?
MME-related 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.
At what age does MME-related autosomal dominant Charcot Marie Tooth disease type 2 typically begin?
Typical onset of MME-related autosomal dominant Charcot Marie Tooth disease type 2 is adult. Age of onset can vary across affected individuals.