NM Update Course II: Mind the Gap! Between Theory and Practice-CoursebookNM Update Course II Mind the Gap Between Theory and Practice

CoursebookNM Update Course II Mind the Gap Between Theory and Practice

Pdf Summary

Patient 1: 28-year-old male with slowly progressive muscle weakness affecting legs more than arms, numbness and tingling in feet and hands, atrophy of leg and hand muscles, absent reflexes, diminished sensation. Likely a genetic neuromuscular disorder, further investigation needed.<br /><br />Patient 2: 43-year-old woman with bilateral foot drop, muscle atrophy in hand intrinsics, varying muscle strengths, no fasciculations or myotonia. Differential diagnosis includes Charcot-Marie-Tooth disease or other peripheral neuropathies. Further testing needed.<br /><br />Patient 3: 59-year-old woman with intact sensation, normal reflexes (except ankles), flexor plantar responses, steppage gait, increased activity in some muscles on electromyography, mutation in DES gene associated with myofibrillar myopathy and cardiomyopathy. Evaluation of muscular dystrophy based on clinical phenotype, inheritance pattern, and associated manifestations.

Keywords

muscle weakness

numbness

tingling

atrophy

absent reflexes

genetic neuromuscular disorder

bilateral foot drop

Charcot-Marie-Tooth disease

peripheral neuropathies

muscular dystrophy

CMT