Living with Myofibrillar myopathy 4
A rare inherited muscle condition with weakness that starts late in adulthood, first in the lower legs and ankles.
Understanding Myofibrillar myopathy 4
People first have ankle weakness, then weakness in the finger and wrist extensors, and later in muscles near the center of the body. Walking is usually preserved. Heart muscle disease or nerve problems have been reported in a few people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the muscles of the lower legs and ankles
- Tiring easily in the limbs
- Weakness in the hand muscles
- Slowly worsening weakness near the center of the body
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in LDB3 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- 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
- 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
GARD lists changes in the LDB3 (ZASP) gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: late-onset distal myopathy, markesbery-griggs type; ldb3 myofibrillar myopathy (disease); myofibrillar myopathy (disease) caused by mutation in ldb3; myofibrillar myopathy type 4; myopathy, myofibrillar, type 4; zasp-related myofibrillar myopathy
Patient organizations
- Muscular Dystrophy AssociationMyofibrillar myopathy 4 · United States
You are more than your diagnosis
Perspectives from people navigating life with Myofibrillar myopathy 4.
Explore research for Myofibrillar myopathy 4
Explore actively recruiting Myofibrillar myopathy 4 studies with HealthSpark.
Find actively recruiting studies for Myofibrillar myopathy 4 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Myofibrillar myopathy 4 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Myofibrillar myopathy 4
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Myofibrillar myopathy 4 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.