Related Conditions and Treatments
CDKL5 disorder is a rare neurodevelopmental condition that is characterized by early onset epilepsy, low muscle tone, and developmental challenges.
Epilepsy in Children
Epilepsy is a complex condition that makes a child susceptible to seizures.
Fragile X Syndrome
Fragile X syndrome is a genetic condition that can cause a range of learning and developmental problems.
Mitochondrial disease is not a single disorder but an umbrella term for dozens of individual disorders in which the body’s cells have problems producing energy.
Muscular Dystrophy (MD)
Muscular dystrophy is a general name for a group of rare diseases that cause muscle weakness. It is caused by mutations in certain genes.
Nervous System Disorders
Nervous system disorders can involve a range of conditions that may be chronic or may be triggered by secondary factors.
Neuromuscular scoliosis is one of three main types of scoliosis that cause an irregular curvature of the spine.
PTEN Hamartoma Tumor Syndrome (PHTS)
PTEN hamartoma tumor syndrome (PHTS) is a genetic disorder caused by a defect in a gene called PTEN.
Phelan-McDermid syndrome, also called 22q13 deletion syndrome, is a genetic disorder caused by deletion of part of chromosome 22 or a defect in a gene called SHANK3.
Rett syndrome is a genetic disorder that causes a loss of spoken language and motor skills, as well as behavioral and neurological problems.
Seizures in Children
Seizures happen when brain cells fire or “talk” too much, temporarily disrupting the brain’s normal electrical signals. They’re quite common, especially in infants and young children.
Sturge-Weber syndrome (SWS) is a rare neurological condition that is present at birth and is not hereditary.
Tuberous Sclerosis Complex (TSC)
Tuberous sclerosis complex (TSC) is a rare genetic condition that causes tumors to grow in many different organs of the body.