NAF has launched a petition on Change.org calling on the FDA to prioritize treatment options for rare diseases with urgent unmet needs, including Spinocerebellar Ataxia (SCA).
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Escrito por Ziyang Zhao Editador por la Dra. Hayley McLoughlin Traducido por Ismael Araujo Aliaga Una aplicación para teléfonos inteligentes recientemente desarrollada permitirá a los pacientes evaluar la ataxia en casa. Existe un problema interesante en la ciencia que a menudo queda eclipsado en la comunidad científica. No es tan llamativo ni Read More…
Distonia é uma desordem que afeta a maneira como uma pessoa se move. Mais especificamente, pessoas com distonia têm contrações musculares involuntárias, que podem causar posturas anormais. A distonia pode afetar qualquer músculo do corpo, incluindo a face, pescoço, tronco e membros. O impacto da distonia pode ser muito variável Read More…
Our nervous system consists of the central and the peripheral nervous system. The brain and spinal cord are components of our central nervous system (CNS), while the peripheral nervous system consists of all other nerves that travel from the CNS to supply our face and the rest of our body. Read More…
Written by Caroline Spencer, PhD Edited by Celeste Suart, PhD ClearSpeechTogether is a virtual group-based speech therapy program for people with speech problems due to progressive ataxia. In this article, researchers studied whether an online, group speech therapy program was helpful for people with ataxia. The study tested the hypothesis that Read More…
La coordinación de movimientos finos y efectivos es esencial en las tareas diarias, como hablar o caminar. La capacidad de orquestar exitosamente estos movimientos se denomina comúnmente “coordinación motora”. Si bien los pacientes con SCA generalmente pueden iniciar los movimientos con sus cuerpos, su capacidad para ejecutarlos de manera fina Read More…
For healthy function, our body performs many essential cellular processes mediated by the molecules created within us. This construction is based on a molecule called DNA, which acts as an instruction manual by carrying all the genetic information within our body. Every person’s genome, or collection of DNA, is completely Read More…
Myoclonus is a neurological clinical sign marked by sudden, quick, and involuntary muscle contractions or jerks. These contractions can happen in one muscle group or in several muscle groups at the same time. Myoclonus can be a single incidence or occur in a repetitive pattern. The intensity and frequency of Read More…
Aspiration refers to the entry of food, liquid, saliva, or other materials into the airway instead of the esophagus during swallowing. This can occur when the coordination of muscles involved in swallowing is disrupted. As a result, materials can “go down the wrong pipe,” potentially leading to choking or respiratory Read More…
Escrito por Dr. Celeste Suart Editado por Priscila Pereira Sena Traducido por Ismael Araujo Aliaga Un grupo internacional de investigadores desarrolló una novedosa herramienta para visualizar grandes bases de datos de información clínica de ataxias espinocerebelosas. Las ataxias espinocerebelosas (SCAs) son la forma más común de ataxias de herencia dominante a nivel Read More…
To function properly, our body depends on many essential processes that are moderated by molecules created within us. Creating these crucial molecules, also called proteins, involves multiple steps and precursor molecules (Figure 1). In the first step, the DNA, which serves as the reference blueprint and contains the vital information Read More…
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