Tag: inherited disorders
Globoid Cell Leukoencephalopathy
Globoid Cell Leukoencephalopathy Definition and Description of Globoid Cell Leukoencephalopathy Globoid Cell Leukoencephalopathy (GCL) is a rare, inherited neurological disorder characterized by the progressive degeneration of the nervous system. It is a form of leukodystrophy, which affects the white matter of the brain. GCL is primarily caused by the deficiency of the enzyme galactocerebrosidase (GALC),…
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Definition and Description of Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease (CMT) is a group of inherited neurological disorders that affect the peripheral nerves, which are responsible for transmitting signals between the brain, spinal cord, and the rest of the body. CMT results in muscle weakness, atrophy, and sensory loss, typically beginning in the feet and…