Living with Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
A rare genetic condition of thiamine (vitamin B1) handling with spasms, seizures, and delays starting in infancy.
Understanding Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
It starts with infantile spasms that progress to other seizures, with severe global developmental delay. The brain shrinks over time, and scans show changes in deep brain areas (the thalamus and basal ganglia). It begins in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Infantile spasms and seizures
- Global developmental delay
- Poor balance and coordination (ataxia)
- Muscle tightness (dystonia)
- Unclear speech (dysarthria)
- Drowsiness and confusion
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 SLC19A3 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 SLC19A3 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: infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
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 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome.
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