The Norton Children’s Neurogenetics Clinic specializes in treating children with neurological conditions of the brain, spinal cord, nerves and muscles caused by changes in genes or chromosomes, sometimes called neurogenetic disorders. Epilepsy and muscular dystrophies are some of the conditions we treat.

Neurogenetic disorders can have many different symptoms depending on a child’s genetic makeup. Sometimes the condition is apparent at birth. Other times, it may not appear until later in childhood. For some children, it is a long road of seeing many specialists and undergoing tests to understand what is causing symptoms.

The Norton Children’s Neurogenetics Clinic aims to properly diagnose these complex health issues. Our multidisciplinary approach to care allows your child to be evaluated by several pediatric specialists all in the same visit. These specialists share clinic space, working to provide a comprehensive, thoughtful evaluation and treatment plan to address your child’s specific neurogenetic condition.

The Norton Children’s Neurogenetics Clinic is made up of board-certified, fellowship-trained physicians from across the Norton Children’s network of pediatric specialists and geneticists, who understand the unique challenges these conditions present for a child and family.

How Genetic Counseling Can Help

Genetic counseling provides crucial information about your child’s overall health. Our geneticists can help you learn about genetic disorders and their specific effects based on the child’s chromosomes and genes. Once a specific diagnosis is confirmed by the team, a multidisciplinary treatment plan can be built.

Neurogenetic Conditions We Treat

These conditions include malformations of the brain, neurodevelopmental disorders, genetic syndromes and chronic issues such as seizures, loss of muscle tone, balance and learning difficulties, such as:

• Brain malformations, including agenesis of the corpus callosum and polymicrogyria
• CDKL5 deficiency disorder
• Chromosomal disorders
• Congenital myopathies
• Cranial nerve disorders
• Epilepsy
• Eye movement disorders
• Fragile X syndrome
• Intellectual disabilities
• Mitochondrial disorders
• Muscular dystrophies
• Neurometabolic disorders
• Rett syndrome
• Sturge-Weber syndrome
• Tuberous sclerosis complex (TSC)

Norton Children’s Neurogenetics Clinic Specialties

The Norton Children’s Neurogenetics Clinic core team consists of board-certified, fellowship-trained physicians, advanced practice providers, therapists, nurses and other health care professionals in various pediatric specialties, including:

• Genetics
• Neurology