There are numerous neurogenetic and neurometabolic disorders which can affect children. All of these diseases occur due to the presence of abnormal genetic material, which is usually transmitted from one or both parents. These diseases appear in multiple different ways including developmental delays or loss of developmental milestones, muscular weakness, eye changes, hearing loss, seizures, and other signs and symptoms.
Testing for children with suspected neurogenetic disorders may include laboratory tests for various types of exams, which can be as simple as a blood count to more sophisticated testing including gene sequencing, MRI and/or EEG. Sometimes, additional hearing and visual evaluations may be required.
The management of neurogenetic disorders can be challenging and requires a multidisciplinary approach, which consists of a neurologist, a geneticist, and, sometimes, a nutritionist.