Living with Benign paroxysmal torticollis of infancy
A rare, short-term condition in which babies have repeated episodes of the head tilting to one side.
Understanding Benign paroxysmal torticollis of infancy
Episodes begin between infancy and early childhood. During them, a child may also be irritable, pale, drowsy, or vomit. Some have unsteadiness (ataxia) or dizziness (vertigo). It runs in some families.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Head tilted or twisted to one side (torticollis)
- Irritability
- Vomiting
- Pale skin
- Dizziness (vertigo) and unsteadiness (ataxia)
- Drowsiness
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 CACNA1A 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
Dystonia Medical Research 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: Dystonia Medical Research 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 Dystonia Medical Research 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 CACNA1A gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
Broader rare-disease groups
- 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 Benign paroxysmal torticollis of infancy.
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