Living with Huntington disease-like syndrome due to C9ORF72 expansions
A rare genetic brain condition of adults with movement problems, memory and thinking changes, and mood or behavior changes.
Understanding Huntington disease-like syndrome due to C9ORF72 expansions
Movement problems include muscle stiffness or twisting (dystonia), jerking (chorea), brief muscle jerks (myoclonus), tremor, and rigidity. Memory and thinking problems can occur. Mood and behavior changes may start early. It begins in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination (ataxia)
- Jerking movements (chorea)
- Rigidity
- Memory impairment
- Cognitive impairment
- Inappropriate behavior
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 C9orf72 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 the C9orf72 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: c9orf72-related huntington disease phenocopy; c9orf72-related huntington disease-like syndrome; huntington disease phenocopy due to c9orf72 expansions; huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions
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 due to C9ORF72 expansions.
Explore research for Huntington disease-like syndrome due to C9ORF72 expansions
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