Neurodevelopment

Date/Time: Sunday, October 23, 2022 - 3:30 PM – 5:30 PM
Track: Cross-Cutting Special Interest Group
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Description:

Mitochondrial disease includes a broad and diverse array of conditions that impact the health of multiple organ systems in the body. Onset of disease during development may have significant impacts on developmental outcomes, and presentations during adulthood may elude timely diagnosis due to poor recognition of cardinal symptoms. The prolonged time to reach diagnosis may increase morbidity and patients may miss opportunities to have access to clinical trials and multi-system symptomatic treatments. The panel of presenters will discuss later childhood and adult presentations of seizure, stroke, and neuropathies using a case-based format to illustrate the importance of eliciting key history and clinical features that should prompt molecular testing for mitochondrial disorders. An advocacy based perspective will also be represented to illustrate a multigenerational impact and disease burden of many mitochondrial disorders. 

Chair: Jodi Lindsey, MD

Co-Chair: Miya Asato, MD

Objectives:

  • To recognize “common” presentations of mitochondrial disorders in different aged patients presenting with neurological symptoms.
  • To identify appropriate molecular diagnostic testing and other clinical testing to more accurately diagnose a mitochondrial disorder
  • To list available resources for specialized diagnostic and therapeutic care for patients with mitochondrial disorders

Updates on Clinical Management and Clinical Trials for Adults with Primary Mitochondrial Disease

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Genetic Testing

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Presentation of Mitochondrial Sisorders and Implications Across the Lifespan

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Mitochondrial Malfunctions and Inherited Axonal Neuropathies

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Unraveling the Role of TBCK in Human iPSC-Derived Neurons: Mitochondrial Dysfunction Due to mRNA Transport Defects as Mechanism of Neurodegeneration?

Poster Presenter: Xilma Ortiz-Gonzalez, MD, PhD, University of Pennsylvania


Psychometric Outcome Measures in Beta-Propeller Protein-Associated Neurodegeneration (BPAN)

Poster Presenter: Laura Adang, MD, PhD, The Children's Hospital of Philadelphia


 

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