Living with X-linked spasticity-intellectual disability-epilepsy syndrome
A rare genetic condition that begins in infancy, with seizures, stiff muscles, delayed development and intellectual disability.
Understanding X-linked spasticity-intellectual disability-epilepsy syndrome
Infants have myoclonic epilepsy (seizures with sudden jerks), stiff muscles throughout the body, and severe delays in development. Intellectual disability ranges from moderate to profound. Female carriers may show mild, widespread brisk reflexes. Late-onset spastic ataxia (stiffness with poor coordination) has also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Spasticity (involuntary muscle stiffness or spasm)
- Muscle stiffness and rigidity
- Increased muscle tone (hypertonia)
- Weakness or paralysis on one side (hemiplegia)
- Repeated seizures without recovery (status epilepticus)
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 ARX 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
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: 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 Simons Searchlight 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 ARX gene cause this condition. It is inherited in an X-linked way, meaning the gene is on the X chromosome.
Also known as: x-linked spasticity, intellectual disability, epilepsy syndrome
Patient organizations
- Simons SearchlightX-linked spasticity-intellectual disability-epilepsy syndrome · United States
- Epilepsy FoundationEpilepsy · United States
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