Living with Childhood onset GLUT1 deficiency syndrome 2
A genetic movement condition with painless attacks of muscle stiffness or twisting, usually brought on by long periods of exercise.
Understanding Childhood onset GLUT1 deficiency syndrome 2
Attacks of dystonia (involuntary muscle contractions) of the arms or legs are triggered by prolonged physical activity. The attacks are painless. GARD lists onset at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Attacks of abnormal movement (paroxysmal dyskinesia)
- Involuntary muscle contractions (dystonia)
- Writhing, jerky movements (choreoathetosis)
- Brief staring-spell seizures
- Pins and needles feeling (paresthesia)
- Intellectual disability, in some
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 SLC2A1 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
GARD says changes in the SLC2A1 gene cause this condition. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: childhood onset glut1 deficiency syndrome type 2; dystonia 18; dyt18; glut1 deficiency syndrome 2; glut1 deficiency syndrome 2, childhood onset; glut1 deficiency syndrome type 2
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Childhood onset GLUT1 deficiency syndrome 2.
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