A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia dysarthria seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
Newly diagnosed with
Progressive cavitating leukoencephalopathy?
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Advocacy Organizations
Alex, The Leukodystrophy Charity
Support and access to treatment for everyone living with leukodystrophy Provide support for those living with leukodystrophy, and their families/carers Raise awareness of leukodystrophy Improve best practice in prevention, diagnosis & treatment Support research initiatives
Cure LBSL
Our Mission Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
United Leukodystrophy Foundation
OUR MISSION is to provide support to the leukodystrophy community and enable platforms to accelerate improving patient quality of life and finding cures. OUR VISION is to meet the needs of patients and families, whether newly diagnosed or living with a leukodystrophy.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.