agenesis of the corpus callosum with peripheral neuropathy

This condition is a neurodegenerative disorder marked by severe, progressive sensorimotor neuropathy that begins in infancy. It affects the nerves that control movement and sensation, leading to decreased muscle tone (hypotonia), loss of reflexes (areflexia), and muscle wasting (amyotrophy). In addition, the brain structure called the corpus callosum, which connects the two sides of the brain, shows variable degrees of dysgenesis or may be absent. People with this condition may experience mild to severe intellectual and developmental delays. Psychiatric features like paranoid delusions, depression, hallucinations, and behaviors that are similar to autism have also been observed. The condition is inherited in an autosomal recessive pattern, which means that two copies of the mutated gene are needed for the disorder to occur.

Common symptoms include progressive sensorimotor neuropathy that affects movement and feeling. People may also have muscle weakness, decreased reflexes, and muscle wasting. There is also variable dysgenesis of the corpus callosum, and additional signs such as intellectual and developmental delays along with psychiatric manifestations like depression and hallucinations.

The disorder is inherited as an autosomal recessive trait, meaning that a child must receive a copy of the mutated gene from each parent to develop the condition. Mutations in the SLC12A6 gene have been identified as a cause of the nerve problems and other clinical features seen in this condition.

Information about treatment is currently limited for this condition.

The progression of this disorder can lead to significant challenges. Many individuals with this condition become wheelchair restricted by the second decade of life, and it is noted that life expectancy may be shortened, with many affected individuals dying in the third decade of life.

Information about research is currently limited for this condition.