Living with Myopathy due to calsequestrin and SERCA1 protein overload
A rare inherited muscle condition with mild muscle weakness, or high muscle enzyme levels without symptoms, in adults.
Understanding Myopathy due to calsequestrin and SERCA1 protein overload
People have mild muscle disease, or high levels of the muscle enzyme creatine kinase in the blood without any symptoms. GARD lists onset in adulthood.
Signs & symptoms
GARD lists muscle disease (myopathy) as the main feature.
- Muscle disease (myopathy)
- High creatine kinase in the blood, sometimes without symptoms
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 CASQ1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 CASQ1 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: myopathy, vacuolar, with casq1 aggregates; vacuolar aggregate myopathy; vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Myopathy due to calsequestrin and SERCA1 protein overload.
Explore research for Myopathy due to calsequestrin and SERCA1 protein overload
Explore actively recruiting Myopathy due to calsequestrin and SERCA1 protein overload studies with HealthSpark.
Find actively recruiting studies for Myopathy due to calsequestrin and SERCA1 protein overload 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 Myopathy due to calsequestrin and SERCA1 protein overload 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 Myopathy due to calsequestrin and SERCA1 protein overload
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 Myopathy due to calsequestrin and SERCA1 protein overload 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.