Living with Myofibrillar myopathy 2
A rare inherited muscle condition with weakness that starts in adulthood, sometimes with heart problems and cataracts.
Understanding Myofibrillar myopathy 2
People have slowly worsening weakness and wasting in the muscles of the arms and legs. It can also involve the throat, causing trouble swallowing and a changed voice, and sometimes weak breathing muscles. Heart muscle disease and cataracts in the back of the lens can occur in some people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness in the hands, feet, and lower legs
- Weakness near the center of the body
- Neck muscle weakness
- Trouble swallowing (dysphagia)
- Voice changes (dysphonia)
- Cataracts
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in CRYAB 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 Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Muscular Dystrophy Association, Children's Cardiomyopathy 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
GARD lists changes in the CRYAB gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: alpha-b crystallin-related late-onset distal myopathy; alpha-b crystallin-related late-onset myopathy; alpha-b crystallinopathy; autosomal dominant distal myopathy caused by mutation in cryab; cryab autosomal dominant distal myopathy; cryab-related myofibrillar myopathy
Patient organizations
- Muscular Dystrophy AssociationMyofibrillar myopathy 2 · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Myofibrillar myopathy 2.
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