Clinical and Molecular Manifestations of Inherited Neurological Disorders

What this Trial Is About

Researchers are studying the natural history and genetic basis of inherited neurological disorders, including hereditary peripheral neuropathies, myopathies, muscular dystrophies, motor neuron disorders, mitochondrial myopathies, neurocognitive disorders, and others. This observational study aims to better understand these rare and complex diseases by examining symptoms, disease progression, treatment effects, and psychological and behavioral impacts across a broad range of inherited neurological conditions. Participants include children and adults with diagnosed or suspected inherited neurological diseases, as well as their unaffected relatives. They will undergo detailed medical and family history reviews, physical and neurological exams, and may have blood, urine, or genetic testing, along with brain wave recordings and psychological evaluations. Imaging tests and muscle or nerve testing may also be performed based on individual symptoms. Samples such as blood or skin biopsies may be collected for genetic analysis. Throughout the study, participants will be evaluated with various assessments including neurological exams, psychological tests, and possibly imaging scans. Researchers will track genetic disease identification and deep phenotyping of rare neurological disorders. The study aims to collect data over a long duration to enhance understanding, diagnosis, and future research. Participants may also contribute samples for laboratory studies, and the study supports training of fellows and students. The total enrollment is planned for up to 3,500 participants and their relatives, with ongoing follow-up until genetic diagnoses are made.

Study of Inherited Neurological Disorders