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Neurogenetic disorders are conditions caused by changes in genes and chromosomes. These conditions affect the brain, spinal cord, nerves and muscles. Neurogenetic disorders can create health problems at birth or later in childhood.
There are many different types of neurogenetic disorders. While these conditions are rooted in genetic changes, not all of them are inherited. Types of neurogenetic disorders include:
The symptoms of neurogenetic disorders vary widely, and while some symptoms get worse over time, other symptoms improve as children get older.
Symptoms of neurogenetic disorders may be very much the same as those caused by nongenetic neurologic problems. However, neurogenetic disorders are not acquired and may have a genetic cause.
When a genetic cause is identified, the information may help families better understand a particular condition. Genetic factors also may allow an estimate of recurring risk in a given family and may affect treatment of specific symptoms.
A multidisciplinary team of pediatric specialists in neurology, neurosurgery, genetics and neonatology treat neurogenetic disorders at Riley at IU Health. Depending on the specific neurogenetic condition, your child may need services from additional specialists, including experts in audiology, endocrinology, feeding disorders, ophthalmology, pain management, physical and occupational therapy, psychiatry and psychology, rehabilitation medicine and speech pathology.
Doctors at Riley at IU Health perform the following exams and tests to diagnose neurogenetic disorders:
Treatments for neurogenetic disorders are as varied as the symptoms that accompany these conditions. Some treatments include:
View these links to learn about support groups and resources for neurogenetic conditions.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This organization supports research and provides extensive information for children and families living with neurofibromatosis.
The Muscular Dystrophy Association provides families with information and resources to manage life with a neuromuscular disease.
The NCBI provides access to GeneReviews, a clinically reviewed overview of the diagnosis, management and genetic counseling of patients and families with inherited conditions.
This group supports research and helps families living with a mitochondrial disorder by providing access to information about treatments and therapies.
Doctors with Riley Neurology at IU Health participate in multiple research efforts related to neurogenetic disorders. Current research studies focus on improving outcomes for newborns with neurologic issues and seizures, autism research and brain chemistry, neurocutaneous disorders and studies with hematology and oncology doctors into neurofibromatosis tumors that are difficult to treat.