PLAA-associated neurodevelopmental disorder
Synonyms: PLAAND
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy microcephaly severe global developmental delay and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex seizures dystonia and hypomimia or amimia as well as progressive chest deformities and contractures of large and hyperextensibility of small joints among others. Thin corpus callosum is a prominent feature in brain imaging in addition to white matter abnormalities consistent with leukoencephalopathy.
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 October 2023.
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PLAA-associated neurodevelopmental disorder?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.