Abstract
Rippling muscle disease (RMD) is a rare myopathy characterized by electrically-silent abnormal muscle hyperexcitability triggered by stretch, percussion or movement. The most frequent genetic form of the RMD is due to caveoline gene mutation whereas acquired form (immune-mediated, iRMD) is associated with myasthenia gravis (MG). We present a case of a man (66 y.) hospitalized two years ago in the Medical University of Warsaw, Department of Neurology with muscle stiffness, pain, cramps and involuntary muscle rolling contraction provoked by mechanical stimuli. Fifteen years ago he experienced a 3 months-long period of diplopia and ptosis. At that time MG was excluded on the basis of normal repetitive stimulation nerve (RNS) tests, SFEMG and normal chest CT scan. Acetylocholine receptor autoantibody (AChRAb) was not tested at that time. Cerebral arteries and brain stem pathology were excluded. Muscle symptoms which were the reason of the hospitalization started 8 y. ago. EMG examination performed at that time revealed mild myopathic changes with sporadic myotonic discharges. Myotonic dystrophy type 2 was then excluded by molecular test. Muscle biopsy revealed mild, non characteristic changes. At the time of hospitalization the patient presented a generalized muscle rippling and mild weakness of proximal muscles of the legs. CK serum level was within the normal limits. EMG examination was normal with electrical silence during muscle rippling. RNS tests were normal, but SFEMG revealed abnormal jitter. Serum level of AChRAb was over upper limit so diagnosis of MG was established. The treatment of methylprednison was administered with positive effect concerning decreasing of muscle rippling, cramps and muscle pain after a few weeks and remains stable after two years. We emphasize a clinical manifestation of iRMD in association with MG. Interestingly, clinical symptoms of iRMD are manifested in the time of full clinical remission of MG.
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