Living with Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
A rare inherited brain condition with changes in white matter and brainstem and high lactate, noticed in newborns and infants.
Understanding Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
MRI scans show changes in the brain's white matter, thalamus, and brainstem, and lactate is high in the body. Severity varies. In milder cases, signs begin after six months, and after age 2 many children improve, regaining some abilities and having fewer seizures. More severely affected infants have features soon after birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Loss of developmental milestones
- Low muscle tone (hypotonia)
- Absent speech development
- Muscle stiffness (spasticity)
- Seizures
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 EARS2 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 Leukodystrophy Foundation, 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 Leukodystrophy Foundation, 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
It is caused by changes in the EARS2 gene. It can be inherited in an autosomal recessive or mitochondrial way.
Also known as: combined oxidative phosphorylation defect type 12; combined oxidative phosphorylation deficiency 12; combined oxidative phosphorylation deficiency caused by mutation in ears2; combined oxidative phosphorylation deficiency type 12; coxpd12; coxpd12 - combined oxidative phosphorylation defect type 12
Patient organizations
- CureARSLeukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome · United States
- United Leukodystrophy FoundationLeukodystrophies · 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 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome.
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