Corpus callosum agenesis-neuronopathy syndrome
Engelsk navn: Corpus callosum agenesis-neuronopathy syndrome
Engelske synonym: Andermann syndrome,Charlevoix disease
Definisjon
A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
Fra Orphanet
ORPHA: 1496
Klassifiseringsnivå: Disorder
ICD-10: G60.0
