Megalencephalic leukoencephalopathy with subcortical cysts

Common Name(s)

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts is a condition that affects brain development and function. Children with this condition have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. They also have an abnormality of the brain's white matter (leukoencephalopathy). The leukoencephalopathy may ultimately result in abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, speech difficulties, and seizures. Despite the brain abnormalities people with this condition tend to have only mild to moderate learning impairment. This condition may affect a childÕs ability to walk, however some children are able to walk well into adulthood. It is important to protect people with MLC from even mild head trauma, because head trauma can cause further impairments and may lead to coma. This condition is genetic and is passed through families in an autosomal recessive pattern. It is most often caused by changes in the MLC1 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Megalencephalic leukoencephalopathy with subcortical cysts" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Megalencephalic leukoencephalopathy with subcortical cysts" returned 0 free, full-text research articles on human participants.

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The terms "Megalencephalic leukoencephalopathy with subcortical cysts" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.