Teachable Moment- Paramyotonia Congentia-Video 2

Video Transcription

Video Summary

Dr. Bakri Alsheikh discusses paramyotonia congenita in a 64-year-old woman. She experienced muscle stiffness and pain since age 7, worsened by cold weather. Her condition involves delayed muscle relaxation and paradoxical myotonia. Differentiating between myotonic dystrophies and non-dystrophic myotonias is crucial. Genetic testing confirmed paramyotonia congenita due to a sodium channel mutation. Symptoms include muscle stiffness aggravated by exercise and cold, predominantly affecting the face and arms. Treatment involves sodium channel-blocking medications and symptom management. Diagnosis relies on history, examination, EMG findings, and genetic testing. CK levels are usually normal. Muscle MRI and short exercise tests play a role in assessment.

Keywords

paramyotonia congenita

muscle stiffness

sodium channel mutation

genetic testing

myotonic dystrophies