Andermann syndrome

Andermann syndrome is an inherited disease characterized by severe progressive damage to the nervous system and absence or malformation of the corpus callosum in the brain. Andermann syndrome involves defects in a transporter protein that is involved in moving potassium (K) and chlorine (Cl) across the cell membrane. Symptoms associated with Andermann syndrome are attributed to the abnormal function of this transporter protein, which is believed to interfere with the development and maintenance of nerve tissue. Other names for Andermann syndrome include hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC); agenesis of the corpus callosum with peripheral neuropathy (ACCPN); Charlevoix disease. View testing options