The Neurogenetics Program at Boston Children’s Hospital is a collaboration of multiple clinics and medical professionals to provide specialty care for children with neurogenetic disorders and their families.
Pediatric neurogenetic disorders are diseases of the brain, spinal cord, nerves and muscles that are caused by changes in genes or chromosomes. There are hundreds of neurogenetic disorders that may present in very different ways. They may cause problems from birth or only become evident in later childhood. They include malformations of the brain, neurodevelopmental disorders, genetic syndromes as well as problems such as seizures, loss of muscle tone, balance and learning.