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Childhood Ataxia: CACH/VWM Overview by jotaum199 is a document available to read on EtoBox.

What is Childhood Ataxia: CACH/VWM Overview about?

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter (CACH/VWM) is a genetic disorder characterized by ataxia, spasticity, and varying degrees of optic atrophy, with different onset forms ranging from prenatal to adult. Diagnosis is based on clinical findings, MRI abnormalities, and identification of pathogenic variants in specific genes related to the eukaryotic translation initiation factor 2B. Management includes physical therapy, prevention of complications, and genetic

Author

jotaum199

Language

EN