Giant Axonal Neuropathy is an autosomal recessive genetic disorder caused by mutations on both copies of the GAN gene. Severity of disease progression widely varies, as some missense mutation patients have a much slower progression. Patients whose GAN mutations render no level of functional protein typically die in the 3rd decade. Some, but not all genetically diagnosed GAN patients have extremely kinky hair.
HNF had the opportunity to connect with Kathleen Bogart, PhD, the Principal Investigator of the Adults with Rare Disorders Support Study in partnership with the National Organization for Rare Disorders
Raising global awareness of inherited neuropathies is a daily challenge we face head on at The Hereditary Neuropathy Foundation. Recognizing and understanding the people living with these debilitating and sometimes fatal disorders are paramount to finding treatments...
Optic neuropathy is one of the symptoms of a less common form of Charcot-Marie-Tooth disease known as CMT6.