Living with Chorea, benign familial
A rare movement condition that begins in infancy or childhood, with jerky movements that often ease with time.
Understanding Chorea, benign familial
Infants may have low muscle tone, involuntary movements (chorea), lung infections, and breathing trouble. Children may be slow to reach motor and walking milestones and may have jerky movements, tics, and dystonia in the arms. The chorea often improves over time. Children can have normal intellect but may have learning and behavior problems. Thyroid and lung problems can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD says these can include:
- Involuntary movements (chorea)
- Low muscle tone in infants
- Delays in motor and walking milestones
- Jerky muscle movements (myoclonus)
- Motor and vocal tics
- Thyroid or lung problems
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD says changes in the NKX2-1 gene (also called TITF1) cause this condition. GARD's summary describes it as passed down in an autosomal dominant way.
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 Chorea, benign familial.
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