Living with Myofibrillar myopathy 5
A rare inherited muscle condition (muscle filaminopathy) with slowly worsening weakness near the center of the body, starting in adulthood.
Understanding Myofibrillar myopathy 5
Weakness is usually first greater in the legs and later involves the arms. People may have trouble climbing stairs, a waddling walk, winging of the shoulder blades, and lower back pain. Weakness in breathing muscles is common, and heart rhythm and heart muscle changes have been reported in some people. GARD lists onset in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the upper leg muscles
- Trouble climbing stairs
- Changes in walking
- Back pain
- Breathing muscle weakness
- Winging of the shoulder blades
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 FLNC 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 FLNC gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: filaminopathy; filaminopathy (type); filaminopathy, autosomal dominant; flnc myofibrillar myopathy (disease); muscle filaminopathy; myofibrillar myopathy (disease) caused by mutation in flnc
Patient organizations
- Muscular Dystrophy AssociationMyofibrillar myopathy 5 · United States
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