NARP (Neuropathy, AtaxiaImpaired coordination of voluntary muscle movements. Manifestations can include, among others, slurred speech, poor balance, unsteady walking, falling, and involuntary eye movements (nystagmus). Usual, and Retinitis PigmentosaThe breakdown and loss of cells in the retina. Resulting in difficulty seeing at night and the loss of side vision.) is a mitochondrialRelated to the mitochondria. disorder with a broad and variable clinical spectrum that can affect the nervous system, vision, movement, swallowing, cognition, and energy. This talk will explore the history and genetics of NARP, how genetic confirmation informs diagnosis and care, and how symptoms such as ataxia and energy impairment can manifest in ways that are often misunderstood. We will also discuss current approaches to symptom management, multidisciplinary care, and the evolving treatment landscape for individuals living with NARP.
About the Speaker:
Lily Walson is a clinical geneticist in the Division of Medical Genetics at Emory University, specializing in the diagnosis, risk assessment, and management of genetic disorders in children and adults, with a focus on adult-onset conditions. She has a particular interest in evaluating multisystem presentations of mitochondrial disorders, including unexplained fatigueThe overall feeling of tiredness or lack of energy. It is not the same as simply feeling drowsy or sleepy. Being fatigued means having no motivation or energy., myopathy, hearing loss, and early-onset diabetes.
Lily Walson, MD, MS
Assistant Professor of Human genetics
Emory University School of Medicine
