Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disease caused by a pathological expansion of CAG trinucleotide repeat located in exon 3 of the ATXN7 gene (). The abnormal expansion results in the incorporation of a segment of polyglutamines into the mutant protein, which induces loss of neurons within the cerebellum, retina, and brainstem. This neuronal death leads to diverse clinical manifestations, which include progressive gait ataxia, pigmental macular dystrophy, dysmetria, dysarthria, dysdiadochokinesia, sensory loss, hyperreflexia, and postural tremor ().
Despite recent advances in the study of the disease, there is no specific medication available to date that can slow or halt the progression of motor disabilities caused by the disease; therefore, other approaches have been proposed, including physical rehabilitation (). It is noteworthy that patients with progressive ataxias that affect the movement are less active than healthy people, this inactivity may contribute to increase the disability caused by the disease itself. Moreover, physical activity is pivotal for general health state and there is evidence for prescribing physical training in the treatment of a number of …show more content…
Available studies are difficult to translate clinically because many of them describe heterogeneous study populations with various identified and unidentified genetic etiologies ().Moreover, the relatively low frequency of the disease has been an obstacle to perform studies aimed to evaluate the effects of these interventions only in SCA7 patients; hence most of these studies have reported low number of
Despite recent advances in the study of the disease, there is no specific medication available to date that can slow or halt the progression of motor disabilities caused by the disease; therefore, other approaches have been proposed, including physical rehabilitation (). It is noteworthy that patients with progressive ataxias that affect the movement are less active than healthy people, this inactivity may contribute to increase the disability caused by the disease itself. Moreover, physical activity is pivotal for general health state and there is evidence for prescribing physical training in the treatment of a number of …show more content…
Available studies are difficult to translate clinically because many of them describe heterogeneous study populations with various identified and unidentified genetic etiologies ().Moreover, the relatively low frequency of the disease has been an obstacle to perform studies aimed to evaluate the effects of these interventions only in SCA7 patients; hence most of these studies have reported low number of