Living with Lethal infantile mitochondrial myopathy
A rare inherited energy-production (mitochondrial) condition of infancy that weakens muscles and affects eye movement.
Understanding Lethal infantile mitochondrial myopathy
It causes growing floppiness (low muscle tone), gradual weakness of eye muscles, and a buildup of lactic acid. Babies may be very sleepy and have absent reflexes. Heart, kidney, liver problems, and seizures may also occur. It begins in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart muscle disease (cardiomyopathy)
- Gradual weakness of eye muscles
- Kidney problems (renal insufficiency)
- Severe delay in development
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 genetic specialists.
- 3Consider genetic testing
Changes in MT-TT 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
- 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 MT-TT gene and is inherited in a mitochondrial pattern.
Also known as: infantile myopathy and lactic acidosis (fatal and non-fatal forms); lethal infantile mitochondrial disease; limd; limm
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 Lethal infantile mitochondrial myopathy.
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