Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

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Synonyms: ANOAC | Axonal neuropathy-optic atrophy-cognitive deficit syndrome

A rare neurologic disease characterized by axonal sensorimotor neuropathy progressive optic atrophy cognitive deficit bulbar dysfunction seizures and early hypotonia and feeding difficulties. Additional possible features include dystonia scoliosis joint contractures ocular anomalies and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.

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 July 2024

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

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.

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Clinical Trials

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