PURPOSE OF REVIEW: Myopathies are a heterogeneous group of disorders that can be challenging to diagnose. The purpose of this review is to provide a diagnostic approach based predominantly on the clinical history and neurologic examination. Laboratory testing that can subsequently be used to confirm the suspected diagnosis based on this pattern recognition approach will also be discussed. RECENT FINDINGS: Over the past decade, numerous discoveries have allowed clinicians to diagnose myopathies with genetic testing. Unfortunately, the testing is extremely expensive and frequently not covered by insurance. SUMMARY: Careful consideration of the pattern of muscle weakness in addition to other aspects of the physical examination and diagnostic testing should assist the clinician in making a timely and accurate diagnosis and minimize the expense of confirmatory genetic testing.
PURPOSE OF REVIEW: Myopathies are a heterogeneous group of disorders that can be challenging to diagnose. The purpose of this review is to provide a diagnostic approach based predominantly on the clinical history and neurologic examination. Laboratory testing that can subsequently be used to confirm the suspected diagnosis based on this pattern recognition approach will also be discussed. RECENT FINDINGS: Over the past decade, numerous discoveries have allowed clinicians to diagnose myopathies with genetic testing. Unfortunately, the testing is extremely expensive and frequently not covered by insurance. SUMMARY: Careful consideration of the pattern of muscle weakness in addition to other aspects of the physical examination and diagnostic testing should assist the clinician in making a timely and accurate diagnosis and minimize the expense of confirmatory genetic testing.