Synonyms: Autosomal dominant spastic ataxia type 7 | SPAX7
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait pyramidal signs in the limbs spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be 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 October 2024
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Spastic ataxia with congenital miosis?
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Advocacy Organizations
Ataxia and me
To relieve the needs of sufferers of Ataxia or other neurological disorders, their families and carers for the public benefit by providing patient led support and by raising awareness of such conditions."
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
National Ataxia Foundation
Ataxia is a rare neurological disease affecting tens of thousands of people in the US and many thousands more around the world. It is progressive, affecting a person’s ability to walk, talk, and use fine motor skills. The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure
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
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