Living with Actin accumulation myopathy
A muscle condition that begins in infancy, with severe weakness, low muscle tone, and breathing and feeding trouble.
Understanding Actin accumulation myopathy
People have severe muscle weakness and poor muscle tone (hypotonia) throughout the body. Signs show up in infancy and include feeding and swallowing difficulties, a weak cry, and trouble controlling head movements. Muscle weakness also affects breathing, so shallow breaths and frequent respiratory infections can occur. Children who are able to move later have delayed motor skills.
Signs & symptoms
GARD lists no common symptoms. The summary describes these features:
- Severe muscle weakness
- Low muscle tone (hypotonia)
- Feeding and swallowing difficulties
- Weak cry
- Shallow breathing, especially during sleep
- Delayed sitting, crawling, and walking
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 ACTA1 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
Changes in the ACTA1 gene cause this condition. It is listed as autosomal dominant. Actin protein filaments build up in muscle cells.
Also known as: acta1 nemaline myopathy; actin accumulation myopathy (disorder); actin myopathy; cmyo2a; congenital myopathy 2a, typical, autosomal dominant; congenital myopathy with excess of thin filaments
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 Actin accumulation myopathy.
Explore research for Actin accumulation myopathy
Explore actively recruiting Actin accumulation myopathy studies with HealthSpark.
Find actively recruiting studies for Actin accumulation myopathy 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 Actin accumulation myopathy 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 Actin accumulation myopathy
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 Actin accumulation myopathy 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.