Synonyms: v-AT
A rare genetic persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs such as resting tremor choreathetosis and dystonia as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia such as risk of malignancy dysarthria and peripheral neuropathy are frequently present.
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
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Ataxia-telangiectasia variant?
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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
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.
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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Clinical Trials
For a list of clinical trials in this disease area, please click here.