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Ataxia

El uso de oligonucleótidos antisentido dirigidos hacia la ataxina-3 mutante puede mejorar la disfunción de las neuronas de Purkinje

Escrito por Asmer Aliyeva Editado por Dr. Hannah K Shorrock Traducido por BS Ismael Araujo-Aliaga  El tratamiento con oligonucleótidos antisentido (ASO) mejora la función de las neuronas de Purkinje regulada por canales de potasio y resalta la conectividad cerebral alterada en el trastorno del movimiento en SCA3. Comprender qué tipos de células Read More…

Snapshot: What is Electromyography (EMG)?

Electromyography, or EMG, is a technique for measuring the electrical activity of skeletal muscles—the muscles that connect to bones and support movement.   When our muscles contract, the tissue produces tiny electrical signals. This electrical activity results from the conduction of specialized peripheral nerves (nerves located outside of the brain or Read More…

Los científicos desarrollan un nuevo enfoque para evaluar la Ataxia en casa

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…

Snapshot: O que é Distonia?

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…

Snapshot: What is Neuropathy?

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…

Online Speech Therapy program helps improve speech in ataxia

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…

Snapshot: What is a De Novo Mutation?

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…

Snapshot: What is Myoclonus?

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…

Snapshot: What is Aspiration?

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…

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