Management Guidelines
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with spinocerebellar ataxia type 2 (SCA2), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:
Neurologic examination
Ophthalmologic examination
Baseline assessment of cognition
Neuroimaging
Consultation with a clinical geneticist and/or genetic counselor
Treatment of Manifestations
Management of individuals remains supportive as no known therapy to delay or halt the progression of the disease exists. Although neither exercise nor physical therapy has been shown to stem the progression of incoordination or muscle weakness, individuals should maintain activity. Canes and walkers help prevent falls. Modification of the home with such conveniences as grab bars, raised toilet seats, and ramps to accommodate motorized chairs may be necessary. Speech therapy and communication devices such as writing pads and computer-based devices may benefit those with dysarthria. Weighted eating utensils and dressing hooks help maintain a sense of independence. When dysphagia becomes troublesome, video esophagrams can identify the consistency of food least likely to trigger aspiration. Improvement of severe tremor with thalamic stimulation has been reported in one individual . Another individual showed improvement with stimulation of the subthalamic nucleus .
Source: GeneReviews — "Spinocerebellar Ataxia Type 2"
