Learn About Megalencephalic Leukoencephalopathy with Subcortical Cysts

What is the definition of Megalencephalic Leukoencephalopathy with Subcortical Cysts?
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a condition that affects brain development and function. Individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy). White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve impulses. In MLC, the myelin is swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy). Leukoencephalopathy can lead to abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, mild to moderate intellectual disabilities, speech difficulties, seizures, and difficulties walking. There are three types of MLC, which are distinguished by their signs and symptoms and genetic cause. Type 1 is caused by genetic changes in the MLC1 gene. Types 2A and 2B are caused by genetic changes in the HEPACAM gene. MLC types 1 and 2A are inherited in an autosomal recessive manner, while type 2B is inherited in an autosomal dominant manner. In some cases of MLC, the cause is unknown.
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What are the alternative names for Megalencephalic Leukoencephalopathy with Subcortical Cysts?
  • Megalencephalic leukoencephalopathy with subcortical cysts
  • LVM
  • Leukoencephalopathy with swelling and cysts
  • MLC
  • Megalencephaly-cystic leukodystrophy
  • Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
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What are the latest Megalencephalic Leukoencephalopathy with Subcortical Cysts Clinical Trials?
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network

Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Megalencephalic Leukoencephalopathy with Subcortical Cysts?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.