Living with Huntington disease-like syndrome
A group of brain conditions that look like Huntington disease but are not caused by the usual Huntington gene.
Understanding Huntington disease-like syndrome
Four types are described: HDL1 through HDL4, and HDL4 is also called SCA17. Like Huntington disease, they cause uncontrolled movements, emotional problems, and loss of thinking ability that worsen over time. HDL1, HDL2, and HDL4 usually begin in early to mid-adulthood. HDL3 begins much earlier, usually around age 3 or 4.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes:
- Irritability and emotional problems
- Small involuntary movements
- Jerking or twitching movements (chorea)
- Poor coordination
- Trouble speaking and swallowing
- Changes in thinking and reasoning
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.
- 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); 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
Changes in genes (also called variants) cause these conditions. They occur in people with Huntington disease features who do not have a change in the gene usually linked to Huntington disease.
Also known as: huntington disease phenocopy syndrome; huntington disease-like syndrome disorder
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 Huntington disease-like syndrome.
Explore research for Huntington disease-like syndrome
Explore actively recruiting Huntington disease-like syndrome studies with HealthSpark.
Find actively recruiting studies for Huntington disease-like 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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