Pontine autosomal dominant microangiopathy with leukoencephalopathy
Synonyms: PADMAL
A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes often with a predilection for the pons with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal bulbar and cerebellar symptoms among others. Brain imaging shows multiple lacunar infarcts typically with involvement of the pons as well as variable leukoencephalopathy of the cerebral hemispheres.
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 May 2024
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Pontine autosomal dominant microangiopathy with leukoencephalopathy?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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