NEUROLOGICAL PICTURE: Muscle hypertrophy in myotonia congenita

Varkey, B.; Varkey, L.
March 2003
Journal of Neurology, Neurosurgery & Psychiatry;Mar2003, Vol. 74 Issue 3, p338
Academic Journal
A 28 year old male presented to authors' neurology service with stiffness of a few years' duration in all muscles. The stiffness was maximum at the onset of exercise and his muscles loosened up after some time. He had no difficulty in releasing his grip after holding an object. He had very well developed muscles in spite of a sedentary lifestyle. There was no family history of similar problems. On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal. Electromyogram showed myotonic potentials with a characteristic dive bomber sound on the loudspeaker. A diagnosis of myotonia congenita was made. He most likely had the recessive form of myotonia congenita because both parents were unaffected clinically. He was started on Mexiletene 200 mg three times daily with resultant improvement in stiffness.


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