Living with Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
A rare inherited brain condition with developmental delay, movement problems, and eye changes, starting in infancy.
Understanding Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
It involves global developmental delay, intellectual disability, and areas of reduced blood flow in the brain seen on MRI. People can have behavior changes, movement problems, seizures, and scoliosis. Facial differences and an eye condition called retinitis pigmentosa are also reported.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Global developmental delay
- Intellectual disability
- Dystonia and jerky movements (chorea)
- Retinitis pigmentosa (eye condition)
- Scoliosis
- 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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene here.
Also known as: autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome.
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