Autosomal recessive cerebral atrophy

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Autosomal recessive cerebral atrophy

A rare genetic neurodegenerative disorder characterized by ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain brainstem cerebellum and infratentorial segments) manifesting in early infancy with acquired microcephaly irritability regression of developmental milestones feeding difficulties akathisia exaggerated startle response spasticity (fisted hands stiff arms leg scissoring) abnormal muscle tone with hypotonic trunk and hypertonic extremities visual impairment and seizures.

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: // Data version September 2023.

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Autosomal recessive cerebral atrophy?

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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.

Clinical Trials

For a list of clinical trials in this disease area, please click here.