Presentation Description / Summary: Neuromuscular diseases are disorders of muscle, the neuromuscular junction and peripheral nerves. Over the past 40 years years diseases in this ever expanding group have been clinically characterized and many accurately classified following the advent of more widespread use of molecular testing. Similar to the 40 year anniversary of ACVIM, I have spent 40 years studying neuromuscular diseases. For this lecture I will choose 3 examples of neuromuscular diseases and describe what we knew in the mid-1980s, how we learned our lessons on the way, and how a final disease characterization was reached. I propose that the lessons from the past will guide our roadmap for the future.
Learner Outcomes: 1.There is more to muscle and nerve than meets the eye. It "takes a village" (history, physical and neurological examination, tissue biopsies, electrodiagnostics, biochemistry and genetics) to accurately diagnose and classify neuromuscular diseases. 2. Molecular testing will play an increasingly important role in neuromuscular disease diagnosis in the future. 3. Things may not be what they seem based on routine histopathological examination of tissue biopsies.
Learning Objectives:
Upon completion, partipant will be able to accurately diagnose and classify neuromuscular diseases based on complete and accurate history, physical and neurological examinations, tissue biopsies, electrodiagnostics, biochemistry and genetic testing.
Upon completetion, partipant will be able to understand the role of molecular testing for current and future diagnosis of neuromuscular diseases.
Upon completion, the participant will be able to understand that routine histopathological examination of tissue biopsies may not provide the complete answer. All diagnostic information needs to be considered and pathological findings evaluated in the clinical context.
