Living with Hereditary myopathy with lactic acidosis due to ISCU deficiency
An inherited muscle condition that causes extreme tiredness and weakness with exercise, starting in childhood.
Understanding Hereditary myopathy with lactic acidosis due to ISCU deficiency
It does not usually affect the heart muscle. From early childhood, even mild exertion can cause extreme fatigue, a fast heartbeat, breathlessness, and muscle weakness and pain. Muscle strength at rest is typically normal. Long or repeated activity can break down muscle tissue (rhabdomyolysis), turning the urine red or brown and potentially harming the kidneys. For most people, it does not worsen over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble exercising (exercise intolerance)
- Easy tiredness
- Muscle weakness
- Frequent falls
- Low muscle tone
- Drooping eyelids
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 ISCU 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
United Mitochondrial Disease Foundation and MitoAction 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: 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 United Mitochondrial Disease Foundation 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
It is caused by changes in the ISCU gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: aconitase deficiency; hereditary myopathy with lactic acidosis; hml; iron-sulfur cluster deficiency myopathy; iscu myopathy; myoglobinuria due to abnormal glycolysis
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary myopathy with lactic acidosis due to ISCU deficiency.
Explore research for Hereditary myopathy with lactic acidosis due to ISCU deficiency
Explore actively recruiting Hereditary myopathy with lactic acidosis due to ISCU deficiency studies with HealthSpark.
Find actively recruiting studies for Hereditary myopathy with lactic acidosis due to ISCU deficiency 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 Hereditary myopathy with lactic acidosis due to ISCU deficiency 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 Hereditary myopathy with lactic acidosis due to ISCU deficiency
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 Hereditary myopathy with lactic acidosis due to ISCU deficiency 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.