Living with GNE myopathy
A muscle condition causing weakness that begins in late teens or early adulthood, often starting with foot drop.
Understanding GNE myopathy
Muscle weakness appears in late adolescence or early adulthood and gets worse over time. Foot drop, trouble lifting the front part of the foot, is often the first sign and changes how a person walks and makes it hard to run and climb stairs. Later, weakness can develop in the upper legs, hips, shoulders, and hands. Unlike most myopathies, it usually doesn't affect the large thigh muscles (quadriceps).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Foot drop
- High-stepping walk
- Leg muscle weakness
- Hip weakness
- Limited shoulder and wrist movement
- Absent ankle reflexes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in GNE are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association and Neuromuscular Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association, Neuromuscular Disease Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GNE gene cause this condition. GARD lists both autosomal recessive and autosomal dominant inheritance.
Also known as: distal myopathy with rimmed vacuoles; distal myopathy, nonaka type; dmrv; hereditary inclusion body myopathy; hereditary inclusion body myopathy type 2; hibm2
Patient organizations
- Muscular Dystrophy AssociationGNE myopathy · United States
- Neuromuscular Disease FoundationGNE myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with GNE myopathy.
Explore research for GNE myopathy
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Find actively recruiting studies for GNE myopathy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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