ÜBER DIESE EPISODE
NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) is a mitochondrialdisorder 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.
Englisch
Vereinigte Staaten
TRANSKRIPT 🔗
Are you the producer of this podcast?
Add a podcast transcript
Need Audio-to-Text?
Transcribe with Listen411 in Just 60 Seconds
VERGANGENE FOLGEN SUCHEN
Vorhandene Folgen von MitoAction Expert Series durchsuchen.
WEITERE EPISODEN IN DIESEM PODCAST
Join us for an informative webinar exploring KYGEVVI™ (doxecitine and doxribtimine), the first FDA-approved treatment for thymidine kinase 2 deficiency (TK2d) in adults and pediatric patients with an age of symptom onset on or before 12 years.
This session will cover:
The basics of TK2d, includin…
Dr. Chatfield will discuss cardiomyopathy and LC-FAODs, share current research, the direction of which it is heading, and treatment strategies. She will also explore prolonged-QT and electrical issues, how this interacts with metabolic crisis, and ways for doctors to monitor the heart.
Patients with progressive or static neuromuscular disease, and certainly mitochondrial disease, can cause significant difficulty with airway clearance. This can be a problem on an everyday basis when a patient is well, but will become a much larger problem when a patient is acutely ill. We will dis…
Genetic testing and muscle biopsies are important tools in diagnosing mitochondrial disease, but sometimes it can be confusing how and when they are used. This presentation will seek to bring clarity around how these two different testing options are used, why clinics may choose to use one testing …
This presentation will dive deep into the “Falcon Study” to explain what this study is, who qualifies, the mechanism of action of the compound being studied, and how its efficacy is measured.
Rechtliche Hinweise: Der auf dieser Seite eingebettete Podcast und das Bildmaterial stammen von MitoAction, das Eigentum seines Eigentümers ist und nicht mit Listen Notes, Inc. verbunden ist oder von diesen unterstützt wird.
BEARBEITEN
Vielen Dank, dass Sie uns helfen, die Podcast-Datenbank auf dem neuesten Stand zu halten.
