Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

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Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

A rare genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures severe global developmental delay progressive brain atrophy and bilateral thalamic and basal ganglia lesions.

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 September 2023.

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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