Patients usually present with intellectual disability, epilepsy, nystagmus and dysarthria that worsens in the second decade of life, and mortality typically occurs in the third decade. [orpha.net]

Management and treatment Treatment is symptomatic, focusing on stimulating intellectual and physical development, as well as communication skills, through physical, occupational and speech therapy, since the initiation of symptoms. [orpha.net]

Prognosis The prognosis varies but is usually poor. Most patients become wheelchair-dependent in the second decade of life and eventually progress to a bedridden state in early adulthood. [orpha.net]

Etiology GAN is associated with more than 50 different causative mutations in GAN gene (16q24.1), encoding the ubiquitously expressed cytoskeletal protein gigaxonin. Diagnostic methods Diagnosis is based on clinical findings and imaging. [orpha.net]

Summary Epidemiology The prevalence is unknown, but to date approximately 50 families have been reported. [orpha.net]