Living with Myopathy, lactic acidosis, and sideroblastic anemia
A rare inherited condition of the cells' energy centers (mitochondria) that causes exercise intolerance, muscle disease, and anemia.
Understanding Myopathy, lactic acidosis, and sideroblastic anemia
It is a type of mitochondrial myopathy (a muscle condition caused by problems in the cells' energy centers). It begins in childhood with exercise intolerance that slowly gets worse. Sideroblastic anemia starts around adolescence. Blood levels of lactic acid are high. It can start at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with exercise (exercise intolerance)
- Muscle disease (mitochondrial myopathy)
- Low red blood cells (anemia)
- Low muscle tone
- Delayed puberty
- Curved spine (scoliosis)
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 blood and bone marrow specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 CureARS 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 says changes in genes cause this condition. It is listed as autosomal recessive and mitochondrial. A child inherits a changed copy of a gene from each parent.
Also known as: mitochondrial myopathy and sideroblastic anaemia; mitochondrial myopathy and sideroblastic anemia; mitochondrial myopathy with sideroblastic anemia syndrome; mlasa; msa; myopathy with lactic acidosis and sideroblastic anemia
Patient organizations
- CureARSMyopathy, lactic acidosis, and sideroblastic anemia · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Myopathy, lactic acidosis, and sideroblastic anemia.
Explore research for Myopathy, lactic acidosis, and sideroblastic anemia
Explore actively recruiting Myopathy, lactic acidosis, and sideroblastic anemia studies with HealthSpark.
Find actively recruiting studies for Myopathy, lactic acidosis, and sideroblastic anemia 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, lactic acidosis, and sideroblastic anemia 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, lactic acidosis, and sideroblastic anemia
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, lactic acidosis, and sideroblastic anemia 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.