Overview
Autosomal dominant Charcot-Marie-Tooth disease type 2Z (CMT2Z) is a rare inherited nerve disorder that belongs to the broader group of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2Z is specifically caused by mutations in the MORC2 gene. It is classified as an axonal form of CMT, meaning it primarily affects the nerve fibers (axons) themselves rather than the protective covering (myelin) around them. This disease affects the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the arms and legs. Over time, damage to these nerves leads to progressive muscle weakness and wasting, particularly in the feet, lower legs, hands, and forearms. People with CMT2Z may also experience sensory loss, meaning reduced ability to feel touch, temperature, or pain in the affected areas. Some individuals may develop additional features such as hearing loss, learning difficulties, or spinal abnormalities, though the severity and range of symptoms can vary widely even within the same family. There is currently no cure for CMT2Z. Treatment focuses on managing symptoms and maintaining function. This typically includes physical therapy, occupational therapy, orthotic devices such as ankle-foot braces, and sometimes surgery to correct foot deformities. Pain management may also be needed. Research into disease-modifying therapies is ongoing but no specific targeted treatments are yet available.
Key symptoms:
Muscle weakness in the feet and lower legsMuscle weakness in the hands and forearmsMuscle wasting (loss of muscle bulk) in the legs and armsDifficulty walking or frequent trippingFoot deformities such as high arches or hammertoesNumbness or reduced sensation in the hands and feetTingling or burning sensations in the extremitiesDifficulty with fine motor tasks like buttoning clothesBalance problemsHearing loss in some casesScoliosis or other spinal curvatureLearning difficulties in some individualsFatiguePain in the legs or feet
Clinical phenotype terms (50)— hover any for plain English
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
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2Z.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant Charcot-Marie-Tooth disease type 2Z.
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 2Z.
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.How severe is my (or my child's) form of CMT2Z based on the specific MORC2 mutation found?,What rate of progression should we expect, and what milestones should we watch for?,What physical therapy and exercise programs do you recommend?,Are there any medications or supplements I should avoid because they could worsen nerve damage?,Should other family members be tested for this genetic mutation?,Are there any clinical trials or research studies for CMT2Z that I could participate in?,How often should I have follow-up appointments and nerve function testing?
Common questions about Autosomal dominant Charcot-Marie-Tooth disease type 2Z
What is Autosomal dominant Charcot-Marie-Tooth disease type 2Z?
Autosomal dominant Charcot-Marie-Tooth disease type 2Z (CMT2Z) is a rare inherited nerve disorder that belongs to the broader group of Charcot-Marie-Tooth diseases, which are among the most common inherited neurological conditions. CMT2Z is specifically caused by mutations in the MORC2 gene. It is classified as an axonal form of CMT, meaning it primarily affects the nerve fibers (axons) themselves rather than the protective covering (myelin) around them. This disease affects the peripheral nerves — the nerves that connect the brain and spinal cord to the muscles and sensory organs in the arms
How is Autosomal dominant Charcot-Marie-Tooth disease type 2Z inherited?
Autosomal dominant Charcot-Marie-Tooth disease type 2Z follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.