CACH Syndrome

Leukoencephalopathy with vanishing white matter

Overview

Type of disease: Rare conditions

Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (brain and spinal cord). This disorder causes deterioration of the central nervous system’s white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects the nerves. Most affected individuals begin to show signs and symptoms in early childhood, which include abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). Symptoms of this condition can be exacerbated by episodes of fever and/or head trauma. More severe forms, which are less common, may be apparent at birth.

This condition is inherited in an autosomal recessive fashion and is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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