Clinical Information

Muscle diseases are a heterogeneous group of diseases that cause muscle weakness, muscle pain, and elevated creatine kinase. They can be acquired and potentially treatable or inherited. A muscle biopsy allows the diagnosis of a specific muscle disease and is helpful for guiding treatment and genetic testing, as well as investigating relevance of genetic variants of unknown significance.

The Mayo Clinic Muscle Pathology Laboratory is staffed by neuromuscular neurologists with expertise in the whole spectrum of muscle pathology and complementary clinical competence, and research interest in muscle diseases. This unique set of skills ensures the highest quality of diagnostic muscle pathology in the shortest possible time to the patients, regardless of their geographic location.

A series of 14 stains is routinely performed on each frozen muscle specimen. Client-submitted and in-house stained slides are reviewed in conjunction with the provided clinical history, electromyography, and other laboratory findings. A variety of ancillary studies are available (eg, immunohistochemistry, immunofluorescence) to aid in establishing the diagnosis. These ancillary studies are most efficiently utilized and interpreted in the context of the morphologic features. Each muscle pathology report includes a description of findings and diagnosis, as well as a comment to facilitate integration of pathological findings with other laboratory and clinical data and to guide subsequent testing (eg, serological or genetic tests).

The goal is to provide the highest quality diagnostic service, while balancing optimal patient care with a cost-conscious approach to solve difficult diagnostic problems.