Overview
GNE myopathy is a rare inherited muscle disease caused by changes (mutations) in the GNE gene. It is also known as Nonaka myopathy, hereditary inclusion body myopathy (HIBM), and Distal Myopathy with Rimmed Vacuoles (DMRV). The GNE gene provides instructions for making an enzyme that helps produce a sugar molecule called sialic acid, which is important for keeping muscle cells healthy. When this enzyme does not work properly, muscles gradually weaken over time. The disease usually begins in early adulthood, most often between the ages of 20 and 40. It typically starts with weakness in the muscles of the feet and lower legs, making it hard to lift the front of the foot — a problem called foot drop. Over time, weakness spreads to the thighs, hips, and arms. One important feature of GNE myopathy is that the quadriceps muscles in the front of the thigh are often spared, at least in the early stages. The heart and breathing muscles are usually not affected. There is currently no approved cure or disease-modifying treatment for GNE myopathy. Care focuses on managing symptoms, maintaining mobility, and supporting quality of life through physical therapy, assistive devices, and occupational therapy. Researchers are actively studying potential therapies, including sialic acid supplementation and gene therapy approaches, giving the community reason for cautious hope.
Also known as:
Key symptoms:
Foot drop — difficulty lifting the front of the foot when walkingWeakness in the lower legs and feetDifficulty walking, tripping, or frequent fallsWeakness spreading to the thighs and hips over timeWeakness in the arms and hands in later stagesMuscle wasting (muscles becoming smaller and thinner)Difficulty climbing stairsNeed for walking aids such as braces, canes, or wheelchairsFatigue with physical activityRelative sparing of the quadriceps (front thigh) muscles, especially early on
Clinical phenotype terms (28)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventLeadiant Biosciences, Inc. — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for GNE myopathy.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersColumbia University Medical Center
📍 New York, New York
👤 Janssen Research & Development, LLC Clinical Trial
👤 Anthony A. Amato, MD
Washington University
📍 St Louis, Missouri
👤 Sawa M Ito, MD, PhD
👤 Anthony A. Amato, MD
University of Iowa
📍 Iowa City, Iowa
👤 Anthony A. Amato, MD
University of Utah
📍 Salt Lake City, Utah
👤 Anthony A. Amato, MD
👤 Richard Neibeger, MD
University of Rochester
📍 Rochester, New York
👤 Anthony A. Amato, MD
Harvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
Travel Grants
No travel grants are currently matched to GNE myopathy.
Community
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Start the conversation →Latest news about GNE myopathy
Disease timeline:
New trial: Multi-Center Study of ManNAc for GNE Myopathy
Phase PHASE2 trial recruiting. ManNAc
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 condition to progress, and what signs should I watch for?,What physical therapy or exercise program is safe and helpful for me right now?,Are there any clinical trials I might be eligible for?,When should I start thinking about assistive devices like braces or a wheelchair?,Should I have my breathing or heart monitored regularly?,Are there patient registries or advocacy groups you recommend I connect with?
Common questions about GNE myopathy
What is GNE myopathy?
GNE myopathy is a rare inherited muscle disease caused by changes (mutations) in the GNE gene. It is also known as Nonaka myopathy, hereditary inclusion body myopathy (HIBM), and Distal Myopathy with Rimmed Vacuoles (DMRV). The GNE gene provides instructions for making an enzyme that helps produce a sugar molecule called sialic acid, which is important for keeping muscle cells healthy. When this enzyme does not work properly, muscles gradually weaken over time. The disease usually begins in early adulthood, most often between the ages of 20 and 40. It typically starts with weakness in the mus
How is GNE myopathy inherited?
GNE myopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does GNE myopathy typically begin?
Typical onset of GNE myopathy is adult. Age of onset can vary across affected individuals.
Are there clinical trials for GNE myopathy?
Yes — 1 recruiting clinical trial is currently listed for GNE myopathy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat GNE myopathy?
10 specialists and care centers treating GNE myopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.