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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Incomplete penetrance is a characteristic of a wide range of genetic diseases, including hereditary forms of neurodegenerative disease, heart disease, and cancer. In short, it means that individuals carrying a disease-causing mutation may not necessarily develop disease symptoms. “Penetrance” refers to the proportion of individuals carrying the disease-causing mutation that Read More…
Written by Alexandra Putka Edited by Dr. Hayley S. McLoughlin Walking measurements detect changes in SCA3 severity across a 1-year study and represent an important biomarker of disease progression Medical doctors use a number of tools to assess a patient’s health: a thermometer and blood pressure monitor, for example. These Read More…
Augmentative and Alternative Communication (AAC) is an umbrella term that has many meanings. Simply put, AAC is every way we communicate other than speaking. At its core, AAC uses symbols. For a message to be considered AAC, it must be represented symbolically. AAC must stand for something else. A simple Read More…
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…
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…
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…
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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