Related Conditions and Treatments
KIF1A-Associated Neurological Disorder (KAND)
Condition
KIF1A-associated neurological disorder (KAND) is a set of genetic conditions caused by variants in the KIF1A gene. Learn more from Boston Children’s Hospital.
Learn more about KIF1A-Associated Neurological Disorder (KAND)
CDKL5 Disorder
Condition
CDKL5 disorder is a rare neurodevelopmental condition that is characterized by early onset epilepsy, low muscle tone, and developmental challenges.
Duchenne Muscular Dystrophy
Condition
Duchenne muscular dystrophy (DMD) is the most common and most severe type of muscular dystrophy.
Epilepsy in Children
Condition
Epilepsy is a complex condition that makes a child susceptible to seizures.
Fragile X Syndrome
Condition
Fragile X syndrome is a genetic condition that can cause a range of learning and developmental problems.
Mitochondrial Disease
Condition
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)
Condition
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
Condition
Nervous system disorders can involve a range of conditions that may be chronic or may be triggered by secondary factors.
Neuromuscular Scoliosis
Condition
Neuromuscular scoliosis is one of three main types of scoliosis that cause an irregular curvature of the spine.
PTEN Hamartoma Tumor Syndrome (PHTS)
Condition
PTEN hamartoma tumor syndrome (PHTS) is a genetic disorder caused by a defect in a gene called PTEN.
Phelan-McDermid Syndrome
Condition
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
Condition
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
Condition
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
Condition
Sturge-Weber syndrome (SWS) is a rare neurological condition that is present at birth and is not hereditary.
Tuberous Sclerosis Complex (TSC)
Condition
Tuberous sclerosis complex (TSC) is a rare genetic condition that causes tumors to grow in many different organs of the body.