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 fatal.
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. A service of the National Library of Medicine, National Institutes of Health.Diagnoses to consider in the differential diagnosis:A safe home environment can minimize the risk of injury from falls.Signs of cerebellar dysfunction (e.g., ataxia, dysmetria) tend to be less prominent and less disabling in individuals with SCA12 than in other types of SCA.Annual reevaluation may be helpful for disability assessment and identification of comorbidities.Your browsing activity is empty.The diagnosis of SCA12 should be considered in the following:Spinocerebellar ataxia type 12 (SCA12) is characterized by onset of action tremor of the upper extremities in the fourth decade, slowly progressing to include ataxia and other cerebellar and cortical signs. SCA12 typically has a more prominent action tremor and fewer signs of cerebellar dysfunction than other SCAs.To establish the extent of disease in an individual diagnosed with spinocerebellar ataxia type 12, the following evaluations are recommended:Adam MP, Ardinger HH, Pagon RA, et al., editors. Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement … Seattle (WA): University of Washington, Seattle; 1993-2020.Activity recording is turned off.NCBI Bookshelf. Affected individuals may present in infancy, childhood, adolescence, young adulthood, middle age, or old age.Molecular Genetic Testing Used in Spinocerebellar Ataxia Type 7ADLs = activities of daily living; LMN = lower motor neuron; OT = occupational therapy/therapist; PT = physical therapy/therapist; TMS = transcranial magnetic stimulation; UMN = upper motor neuronMedical geneticist, certified genetic counselor, or certified advanced genetic nurseTreatment of Manifestations of SCA 7: Adolescent or Adult OnsetRecommended Surveillance for Individuals with SCA7 Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement.People with this condition initially experience problems with coordination and balance (ataxia). The age of onset inversely correlates with rate of progression and extent of symptomatology, as onset in or after the fifth decade of life gives a predominant cerebellar ataxia without progression to significant visual impairment, whereas onset prior to middle age often features progression to vision loss.Disorders with Retinal Degeneration in the Differential Diagnosis of Spinocerebellar Ataxia Type 7Your browsing activity is empty.Terms used in the past to designate SCA7 include olivopontocerebellar ataxia (OPCA) type III and ADCA type II.Avoid drinking alcoholic beverages, as alcohol intake can further impair cerebellar function, especially if excessive.Recommended Evaluations Following Initial Diagnosis of SCA7: Adolescent or Adult OnsetBARS = Brief Ataxia Rating Scale; BCVA = best-corrected visual acuity; ERG = electroretinogram; ICARS = International Co-operative Ataxia Rating Scale; LMN = lower motor neuron; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia; UMN = upper motor neuronRepeat contraction has not been reported.One important aspect of SCA7 clinical manifestations is their extreme variability with respect to age of onset and rate of progression. A service of the National Library of Medicine, National Institutes of Health.In a family with an established diagnosis of SCA7, it is appropriate to consider testing of symptomatic individuals regardless of age.Precise sizing of repeats is not necessary, as clinical utility for determining the exact repeat number has not been demonstrated.Funduscopic photo shows extreme macular degeneration of late-stage SCA7.Involvement of the corticospinal tracts, resulting in brisk tendon reflexes and spasticity, may become evident as the disease progresses.Select Features of Adolescent- or Adult-Onset SCA7Avoid foods identified by a registered dietician as potentially causing dizziness or disorientation.In adults, the progressive cerebellar ataxia (i.e., dysmetria, dysdiadochokinesia, and poor coordination) usually precedes the onset of visual manifestations. Spinocerebellar Ataxia Type 12: Genes and DatabasesThe key to the differential diagnosis of spinocerebellar ataxia type 12 (SCA12) is the presence of prominent upper-extremity tremor; minimal gait ataxia; a variety of signs and symptoms associated with the cerebral cortex, the cerebellum, and in some cases the basal ganglia; slow progression; and a dominant pattern of inheritance. Spinocerebellar ataxia 2 (SCA2) is inherited in an autosomal dominant …

Given the small number of individuals known to have SCA12, it is possible that other clinical manifestations have not yet been recognized.

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