Синдром ранней прогрессирующей диффузной атрофии головного мозга-микроцефалии-мышечной слабости-атрофии зрительного нерва

A rare genetic neurodegenerative disease characterized by early-onset diffuse brain atrophy, growth failure with postnatal microcephaly, developmental delay, regression, profound intellectual disability, hypotonia, muscle weakness and atrophy, intractable seizures, spasticity, and optic atrophy. Patients are usually immobile and often require mechanical ventilation. Brain imaging shows cerebral and cerebellar atrophy, hypomyelination, and thin corpus callosum.