Living with Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
A progressive inherited condition of the brain and spinal cord that causes stiffness, balance problems, and trouble sensing limb position.
Understanding Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Movement problems usually begin in childhood or adolescence, though sometimes not until adulthood. People have muscle stiffness, trouble coordinating movement, and loss of position and vibration sense, affecting the legs more than the arms. Many eventually use a wheelchair. Some are very vulnerable to complications after minor head injury.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with walking (gait problems)
- Muscle stiffness (spasticity)
- Poor coordination (ataxia)
- Clumsiness
- Speech difficulties (dysarthria)
- Loss of position and vibration sense
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 DARS2 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 DARS2 gene. It can be inherited in an autosomal recessive or mitochondrial way.
Also known as: lbsl; lbsl - leukoencephalopathy with brainstem and spinal cord involvement with lactate elevation; leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome; leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome; leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
Patient organizations
- CureARSLeukoencephalopathy with brain stem and spinal cord involvement-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 with brain stem and spinal cord involvement-high lactate syndrome.
Explore research for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Explore actively recruiting Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome studies with HealthSpark.
Find actively recruiting studies for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 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 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 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 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
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 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 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.