A collection of resources for individuals and families affected by Spinocerebellar Ataxia Type 7 (SCA7).
Spinocerebellar Ataxia type 7 (SCA7) has also been referred to as Autosomal Dominant Cerebellar Ataxia type 2 (ADCA2) or Ataxia with Pigmentary Retinopathy.
SCA7 is the result of genetic defects that lead to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). For complete information about symptoms, diagnosis, and treatment of Ataxia, visit our What is Ataxia? page. This page contains NAF’s resources that are specific to SCA7.
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Presented by Ali Hamedani, MD
This webinar gave an overview of the causes and symptoms of the SCA7, the typical diagnostic journey for those affected, and what to expect for clinical care.
Presented by Colleen Stoyas, PhD
This webinar taught us how SCA7 is studied and gave an overview of the current state of research and drug development for the disease.
This is a visual tool created to show the progress of all SCA6 therapies that are currently being developed. Along the vertical axis, treatments are grouped by their mechanism, or how the drug works. The horizontal axis shows the stage of research where the drug is in development. Phases 1 through 3 involve clinical trials with human participants. Visit the SCA7 Pipeline page for more details.
SCA7 is less common than other forms of Ataxia, occurring in less than one per 100,000 people. Some studies show that SCA7 represents 2% of all SCAs.
SCA7 is one type of Ataxia among a group of inherited diseases of the central nervous system. As in many other inherited Ataxias, SCA7 is the result of genetic defects that lead to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain).
SCA7 differs from most other forms of spinocerebellar Ataxia in that visual problems occur in addition to poor coordination. When the disease manifests itself before age 40, visual problems rather than poor coordination are typically the earliest signs of disease, and begins as a difficulty in distinguishing colors and decrease central vision. These changes may progress until the person is legally blind. In addition, symptoms of Ataxia (incoordination), slow eye movements, and mild changes in sensation or reflexes may be detectable. Loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia) become prominent as the disease progresses. In children, failure to thrive and loss of motor milestones may be the earliest findings.
SCA7 is a genetic disorder which means that it is an inherited disease. The abnormal gene responsible for the disease is passed along from generation to generation by family members who carry it. Genetic diseases like SCA7 occurs when one of the body’s 20,000 genes does not work properly. (Genes are submicroscopic chemical structures within the cells of our bodies that contain instructions for every feature we inherit from out parents).
SCA7 is an autosomal dominant disease which means that individuals of either sex are equally likely to inherit the gene and develop the disease, and that it passes directly from one generation to the next without skipping generations. Each child of a person with SCA7 has a 50 percent chance of inheriting the gene that causes it.
A neurological examination can determine whether a person has symptoms typical of SCA, and DNA-based testing can accurately detect the presence or absence of the abnormal gene that causes it. A neurologist is often the most helpful specialist in recognizing symptoms and diagnosing the diseases that causes Ataxia, however, genetic counseling for families with the disease should be sought from a medical geneticist or genetic counselor. Retinal degeneration is the distinguishing feature of SCA7.
Initial signs of SCA7 most often appear in the late teens or early twenties, but the age of onset ranges from infancy to the fifties or sixties. The earlier the onset, the faster the disease progresses. For example, when symptoms appear in childhood, blindness can occur within a few years, while those who first show symptoms in their teens might not experience blindness until 10 years later. When symptoms first appear later in life, the disease progresses even more slowly, and the degree of disability will vary accordingly.
SCAsource provides Ataxia research news, directly from researchers to the Ataxia community. Visit SCAsource to see their full collection. Here is a collection of articles about SCA7.
Written by Dr Hannah K Shorrock Edited by Dr. Maria do Carmo Costa Neurofilament light chain predicts cerebellar atrophy across multiple types of spinocerebellar ataxia A team led by Alexandra Read More…