Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

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Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

A rare severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR) epilepsy cortical atrophy secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly hypotonia spasticity optic atrophy and skeletal anomalies.

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 May 2024

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Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome?

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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.