Other Peripheral Motor Hyperactivity Syndromes

Published on 03/03/2015 by admin

Filed under Neurology

Last modified 22/04/2025

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70 Other Peripheral Motor Hyperactivity Syndromes

Isaac (Merten) Syndrome/Quantal Squander, Neuromyotonia

This is another hyperkinetic presumed peripheral nerve hyperexcitability syndrome that occurs even more rarely than the stiff person syndrome. As noted above, there are a number of synonyms. It is a very unusual neurologic disorder also characterized by the continuous firing of peripheral nerves, and thus muscle fibers. It is much more subtle in its presentation. Typically the age of onset is in the teenage years, but it may be seen in adulthood. This appears to be autoimmune in origin (anti–potassium channel antibodies are positive in some patients.) This is a nonspecific finding per se as these antibodies may be found in a variety of neurologic syndromes.

Here the patient first notes what appears to be an almost continuous firing of groups of muscle fibers usually appearing to mimic fasciculations. These occur concomitantly in both agonists and antagonists. The patient often notes a sense of fatigue. Usually there are no significant associated muscle spasms, cramping, or pain; however, in some instances such may occur. The patient may note a degree of weakness because of the inconsistent firing of opposing muscle groups, leading to ineffective mechanical function. Some patients have excessive sweating.

Other than the apparent pseudo-fasciculations and a hint of muscle weakness, the neurologic examination is normal. Diagnosis is suggested when electromyography (EMG) demonstrates continuous firing of normal motor unit potentials without any abnormalities on insertion. These persist even during sleep. A therapeutic trial of phenytoin or carbamazepine most always leads to a complete cessation of all aspects of this syndrome. This therapeutic result serves to confirm the suspected diagnosis. This is a particularly gratifying diagnosis to make as some of these extremely unusual patients may have received an earlier clinical diagnosis of amyotrophic lateral sclerosis (ALS).