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Spinocerebellar ataxia (SCA) is a progressive, degenerative, [1] genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time .
Ataxia refers to a lack of coordinated muscle movements that include gait abnormality and is the cerebellar sign that typifies all spinocerebellar ataxia (SCA) types, though individuals with SCA1 also develop pyramidal and bulbar signs as the disease progresses. The average age of onset is between 30 and 40 years of age, though exceptions exist.
Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, peripheral neuropathy, and ataxia of the gait, stance, and limbs due to cerebellar dysfunction. Unlike other types, SCA 6 is not fatal.
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction.
Sickle cell disease, also known as sickle cell anaemia; Spinocerebellar ataxia, a neurological condition; Statistical coupling analysis, a method to identify covarying pairs of amino acids in protein multiple sequence alignments; Sudden cardiac arrest, a condition in which the heart suddenly stops beating, leading to sudden cardiac death
Within the first subclass of Type 1 are SCA1, SCA2, SCA3, SCA17, and DRPLA. This first subclass is the most common of Type 1 ADCAs with SCA3 being the most common subtype of all of Type 1. SCA3, Machado-Joseph disease, is the most common because the mutation repeats more than 56 times while the regular length is around 13 to 31. [4]
The disease evolves differently in different people. [36] In general, those diagnosed at a younger age or with longer GAA triplet expansions tend to have more severe symptoms. [5] Congestive heart failure and abnormal heart rhythms are the leading causes of death, [38] but people with fewer symptoms can live into their 60s or older. [22]
This resistance to infection is the main reason the SCA allele and SCA disease still exist. It is found in greatest frequency in populations where malaria was and often still is a serious problem. Approximately one in 10 African Americans is a carrier, [ 15 ] as their recent ancestry is from malaria-stricken regions.