Management Guidelines
No clinical practice guidelines for spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) have been published.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with SCAN1, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:
Complete neurologic examination including use of the Scale for the Assessment and Rating of Ataxia (SARA) and assessment of muscle strength, reflexes, and sensation
Assessment by specialists in rehabilitation medicine, occupational therapy, and physical therapy regarding gross motor skills, fine motor skills, and need for adaptive equipment such as prostheses, walking aids, and/or wheelchairs
Assessment by a speech-language pathologist for evidence of dysarthria and need for ongoing speech-language therapy
Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, mode of inheritance, and implications of SCAN1 in order to facilitate medical and personal decision making
To support the family of an individual diagnosed with SCAN1, review of the following options is recommended:
Source: GeneReviews — "Spinocerebellar Ataxia with Axonal Neuropathy Type 1"
