Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Synonyms: ASCT1 deficiency | Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay postnatal microcephaly and intellectual disability which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities seizures and brain MRI findings including thin corpus callosum delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes extensor plantar responses behavioral abnormalities (such as irritability hyperactivity sleep disorder) abnormal hand movements and stereotypy.
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 April 2024
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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.
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.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.