Living with CARASIL syndrome
An inherited condition that affects the brain's blood vessels, causing strokes, walking problems, and changes in thinking.
Understanding CARASIL syndrome
Signs usually appear in a person's twenties or thirties. Muscle stiffness in the legs and walking trouble are often the first signs. About half of people have a stroke or similar episode before age 40. Many later develop mood and personality changes, memory loss, and decline in thinking ability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Walking problems (gait disturbance)
- Muscle stiffness and spasms (spasticity)
- Stroke-like episodes
- Decline in thinking ability (cognitive impairment)
- Changes in behavior and mood
- Back pain and leg pain
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 HTRA1 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 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
- 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 Leukodystrophy Foundation
- 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
Changes in the HTRA1 gene cause CARASIL. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: carasil; cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2; cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; cerebrovascular disease with thin skin, alopecia, and disc disease; maeda syndrome
Patient organizations
- United Leukodystrophy FoundationCARASIL syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with CARASIL syndrome.
Explore research for CARASIL syndrome
Explore actively recruiting CARASIL syndrome studies with HealthSpark.
Find actively recruiting studies for CARASIL 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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