Dysmetria is a medical term used to describe a condition that affects one’s ability to control and coordinate their movements accurately. In simpler terms, it is like having a glitch in the brain’s “motion control system”. When someone experiences dysmetria, their movements, such as reaching for an object or touching Read More…
Escrito por Dr. Hayley McLoughlin y Dr. Sharan SrinivasanEditado por Dr. Celeste SuartTraducido por Ismael Araujo-Aliaga Una nueva tecnología de secuenciación genética reveló numerosos casos de ataxia familiar asociados a una mutación de un antiguo culpable de la ataxia hereditaria A pesar de los mejorados accesos al diagnóstico genético, la Read More…
Spasticity is a condition where muscles involuntarily stiffen, impeding normal smooth movements. Spasticity can present in varying severities with varying impacts on daily life. For example, minor spasticity resulting in overly stiff muscles can make precise, dextrous tasks difficult, whereas painful, uncontrollable muscle spasms can cause confinement to bed rest. Read More…
Articulation refers to the ability to produce speech sounds using the tongue, lips, jaw, and the roof of your mouth. All of these organs are also known as articulators. The term “articulation” comes from the Latin word “articulatio,” which means “a joint” or “a connection.” In the context of speech Read More…
Escrito por Dr Hannah ShorrockEditado por Larissa NitschkeTraducido por Ismael Araujo-Aliaga Interrupciones en las repeticiones en SCA10 influyen en la estabilidad del tramo repetido y están asociadas con ataques epilépticos Múltiples ataxias espinocerebelosas (SCAs) son causadas por mutaciones de expansión de repeticiones, pero en algunos casos, estas expansiones se encuentran Read More…
In speech-language pathology, the term resonance refers to nasality in speech. In other words, how nasal a person’s speech sounds. When someone is congested, they likely sound hyponasal, or not nasal enough. This is because the congestion is blocking sound from being resonated in the nasal cavity, or the nose. Read More…
The Immune System of the Brain Though the brain is a powerful computational tool, it is also a sensitive and delicate organ. For this reason, it requires specialized protection. This includes the skull, the membranes covering the brain and spinal cord, and the blood-brain barrier (BBB), which is a specialized Read More…
Written by Dr. Hannah K Shorrock Edited by Dr. Celeste Suart Three genetic variants in the NPTX1 gene have been linked to cerebellar ataxia, providing a genetic diagnosis for seven families. Receiving a genetic diagnosis can be incredibly valuable: not only for patients who can access support groups and interact Read More…
Escrito por Ziyang ZhaoEditado por Dr. Hayley McLoughlinTraduzido para o Português por Priscila Pereira Sena Um aplicativo para celulares recentemente desenvolvido permitirá aos pacientes avaliar a ataxia em casa. Há um problema interessante em ciência frequentemente ofuscado pelos cientistas. Não é tão chamativo ou de grande interesse jornalístico como as Read More…
Disease-relevant research is often first conducted in animal models such as mice. This is done to investigate the underlying disease mechanisms and to test promising treatment strategies before moving into clinical studies. The parallel rod floor test is an assay to measure motor coordination difficulties in mice. In the case Read More…
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