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Genetic testing is available for many SCA types, including the relatively common types SCA1, 2, 3, 6, and 7; and the less common SCA8, 10, 12, 14, and 17. [39] However, genetic testing is high in cost and has a low diagnostic yield, with positive diagnoses being found in only 24% of tests ordered by a subspecialist and 10% overall.
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. SCA is hereditary, progressive, degenerative, and often ...
Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, [1] [2] which results in a lack of muscle control and coordination of the upper and lower extremities. [3]
The Boston Diagnostic Aphasia Examination provides a comprehensive exploration of a range of communicative abilities. Its results are used to classify patient's language profiles into one of the localization based classifications of aphasia: Broca's, Wernicke's, anomic, conduction, transcortical, transcortical motor, transcortical sensory, and global aphasia syndromes, although the test does ...
The updated version is the Western Aphasia Battery-Revised (WAB-R). [1] The battery helps discern the presence, degree, and type of aphasia. It can provide a baseline for monitoring changes during therapy. It is useful for determining what to treat. It can provide indications of the location of the lesion that caused the aphasia. [2]
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.
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.
The Duran et al. study is one of few that features long-term follow up reports of LKS and utilizes EEG testing, MRIs, the Vineland Adaptive Behavior Scales, the Connor's Rating Scales-revised, and a Short-Form Health Survey to analyze its patients. [14] Globally, more than 200 cases of acquired epileptic aphasia have been described in the ...