Living with Infantile-onset generalized dyskinesia with orofacial involvement
A rare movement disorder starting in infancy with uncontrolled movements of the limbs, trunk, and face.
Understanding Infantile-onset generalized dyskinesia with orofacial involvement
Babies have delayed motor development and low muscle tone in the trunk. Movements mainly affect the limbs and trunk and may include the tongue and mouth. Brain imaging is normal and thinking skills are typically preserved.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chorea (writhing, jerky movements)
- Unclear speech (dysarthria)
- Drooling
- Feeding difficulties
- Frequent falls
- Delayed motor skills
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 PDE10A 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 PDE10A gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dyskinesia, limb and orofacial, infantile-onset; infantile-onset orofacial-trunk-limbs dyskinesia; infantile-onset orofacial, trunk, limbs dyskinesia; iolod
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 Infantile-onset generalized dyskinesia with orofacial involvement.
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