Living with Lissencephaly type 1 due to doublecortin gene mutation
A brain condition from a DCX gene change that can cause intellectual disability and seizures, and is more severe in males.
Understanding Lissencephaly type 1 due to doublecortin gene mutation
It causes variable symptoms, including intellectual disability and seizures. It is more severe in males than in females. It can show at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smooth or thick brain surface (agyria, pachygyria)
- Seizures and intellectual disability
- Cognitive impairment
- Abnormal muscle tone
- Cerebral palsy
- Behavior changes
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 DCX 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 National Organization of Disorders of the Corpus Callosum 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
It is caused by changes in the DCX gene. It is inherited in an X-linked way.
Also known as: dcx-related lissencephaly; lissencephaly and agenesis of corpus callosum; lissencephaly, x-linked; lissencephaly, x-linked, 1; lissencephaly, x-linked, type 1; subcortical laminal heterotopia, x-linked
Patient organizations
- National Organization of Disorders of the Corpus CallosumLissencephaly type 1 due to doublecortin gene mutation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Lissencephaly type 1 due to doublecortin gene mutation.
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