CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

Definition

A rare genetic neurodegenerative disease characterized by childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency that may lead to ventilator dependency and/or tracheostomy) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present.