Can I read Overview of Andermann Syndrome on EtoBox?

Overview of Andermann Syndrome by Butchay Lumbab is a document available to read on EtoBox.

What is Overview of Andermann Syndrome about?

Andermann syndrome is a rare genetic disorder characterized by motor and sensory neuropathy, absence or malformation of the corpus callosum, muscle weakness and wasting, loss of reflexes, and intellectual disability. It is caused by mutations in the SLC12A6 gene and inherited in an autosomal recessive pattern. The disorder mainly affects the French-Canadian population in Quebec. Management involves addressing symptoms like joint contractures and scoliosis.

Author

Butchay Lumbab

Language

EN