Living with Biotin-responsive basal ganglia disease
A rare genetic nervous system condition that affects movement and may improve with biotin and thiamine vitamins.
Understanding Biotin-responsive basal ganglia disease
It may improve with the vitamins biotin and thiamine. Without early and lifelong vitamin treatment, neurological problems gradually get worse. Signs usually begin between ages 3 and 10 but can appear at any age. Problems include muscle tensing (dystonia), stiffness, weakness, poor coordination, trouble swallowing, slurred speech, and seizures. Symptoms often come in episodes triggered by fever, injury, or other stress.
Signs & symptoms
GARD describes these as possible signs:
- Muscle tensing (dystonia) and stiffness
- Weakness on one or both sides
- Poor coordination (ataxia)
- Trouble chewing or swallowing
- Slurred speech
- Seizures 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, genetic specialists and seizure and epilepsy 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.
- 4Connect with expert centers
Dystonia Medical Research Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Dystonia Medical Research Foundation, Epilepsy 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 and other patient organizations
- 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 autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bbgd; biotin-thiamine-responsive basal ganglia disease; btbgd; encephalopathy, thiamine-responsive; thiamine metabolism dysfunction syndrome 2; thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)
Patient organizations
- Dystonia Medical Research FoundationBiotin-responsive basal ganglia disease · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
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