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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CACNA1A is a gene that contains the genetic information needed to make a transcription factor and a part of a calcium channel. The gene is mainly expressed in the brain and is pivotal to various neuronal functions such as muscle contractions, memory, learning, and gene expression. Mutations in CACNA1A has Read More…
Written by Alexandra Putka Edited by Dr. Pragya Goel Feeling tired? You’re not alone. Fatigue is a common symptom of Spinocerebellar ataxias and affects quality of life. Spinocerebellar ataxias (SCAs) are characterized by various symptoms, but fatigue is not often included on this list. Fatigue is clinically defined as difficulty Read More…
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…
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…
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…
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…
Written by Christina PengEdited by Larissa Nitschke, PhD Ever since the CAG expansion of the Ataxin-1 (ATXN1) gene has been identified as the cause of spinocerebellar ataxia type 1 (SCA1), researchers have been on the hunt for the mechanism of the disease. How does this mutation cause SCA1? So far, Read More…
