Spinocerebellar ataxia type 1, described as progressive cerebellar ataxia, a disorder that occurs when the cerebellum becomes inflamed or damaged, dysarthria (a disorder of articulation, such as stuttering or stammering), and eventual deterioration of bulbar functions (estimates of speech intelligibility and speaking rate). Ataxia, meaning in coordination. When the disease first starts showing up, individuals may experience: “slurred speech, difficulty with balance, and hypermetric saccades” (relating to eye movement) to name a few symptoms. As someone grows older the symptoms worsen. Those who are 60 or older and have Spinocerebellar ataxia type 1 develop “pure cerebellar phenotype” (cerebellar pertaining to the cerebellum, the part of the brain in the back of the head and phenotype pertaining to the characteristics of a person). (GeneReviews: Spinocerebellar Ataxia Type 1)
About 1-2 people out of 100,000 have Spinocerebellar ataxia type 1, varying mostly on geographical location and ethnicity. If a parent has Spinocerebellar ataxia type 1, there is a 50% chance that their child will inherit the disease. To show that someone has Spinocerebellar Ataxia Type 1 they have to go through a molecular genetic test. This type of test determines if someone has the disorder 100% of the time and will find if a trinucleotide repeat is present (the repeating …show more content…
CAG expansion detection by PCR, and Spinocerebellar Ataxia Type 1 Repeat Expansion Analysis (Prenatal Diagnosis) to name a few. All are used to actually diagnose a person with spinocerebellar ataxia type 1. Although, some tests do more than actually diagnose the genetic disorder. Some tests can tell that a mutated gene is present, the symptoms a person might experience throughout their life, and the risks they’re put at. (Genetic Testing
About 1-2 people out of 100,000 have Spinocerebellar ataxia type 1, varying mostly on geographical location and ethnicity. If a parent has Spinocerebellar ataxia type 1, there is a 50% chance that their child will inherit the disease. To show that someone has Spinocerebellar Ataxia Type 1 they have to go through a molecular genetic test. This type of test determines if someone has the disorder 100% of the time and will find if a trinucleotide repeat is present (the repeating …show more content…
CAG expansion detection by PCR, and Spinocerebellar Ataxia Type 1 Repeat Expansion Analysis (Prenatal Diagnosis) to name a few. All are used to actually diagnose a person with spinocerebellar ataxia type 1. Although, some tests do more than actually diagnose the genetic disorder. Some tests can tell that a mutated gene is present, the symptoms a person might experience throughout their life, and the risks they’re put at. (Genetic Testing