Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with ANO5 Muscle Disease

System/ConcernEvaluationComment
Neuromuscular Neurologic eval & manual muscle force measurementTo establish a baseline for future assessment of disease progression & possible need for assistive devices
Muscle imaging (CT or MRI)To identify the pattern of affected muscles in detail
Cardiac Baseline cardiac eval
Other Consultation w/clinical geneticist &/or genetic counselor

From: ANO5 Muscle Disease

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