Living with Mitochondrial myopathy-lactic acidosis-deafness syndrome
A rare muscle condition beginning in childhood, with slow growth, severe muscle weakness, and hearing loss.
Understanding Mitochondrial myopathy-lactic acidosis-deafness syndrome
People have slow growth, severe muscle weakness, and moderate hearing loss from inner ear changes. Blood tests show acid buildup (metabolic acidosis) and raised levels of pyruvate and alanine. GARD notes there have been no further descriptions in the medical literature since 1973.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle disease (mitochondrial myopathy)
- Muscle wasting
- Hearing loss from inner ear changes
- Seizures
- Severe muscle weakness
- Slow growth
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in PNPLA8 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); Ear, nose, and throat specialists (otolaryngologists); 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
This condition is caused by changes in the PNPLA8 gene. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: mitochondrial myopathy with lactic acidosis; mitochondrial myopathy-lactic acidosis-hearing loss syndrome
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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