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Snapshot: What is Dystonia?

June 14, 2024

Dystonia is a disorder that affects the way a person moves. Specifically, people with dystonia have involuntary muscle contractions, which can cause abnormal twisting postures. Dystonia can affect muscles anywhere in the body, including the face, neck, torso, and limbs. The impact of dystonia can vary greatly across individuals. Some Read More…

Snapshot: What Does Incomplete Penetrance Mean?

May 24, 2024

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…

Walking toward a better understanding of SCA3 progression

May 17, 2024

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…

Snapshot: What is Dysmetria?

May 3, 2024

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…

Snapshot: What is Spasticity?

April 19, 2024

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…

Snapshot: What is Articulation?

April 12, 2024

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…

Snapshot: What is Resonance?

March 29, 2024

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…

Snapshot: What are Microglia?

March 22, 2024

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…

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