Skolka, Michael

AbstractIntroduction/AimsRhabdomyolysis is an etiologically heterogeneous, acute necrosis of myofibers characterized by transient marked creatine kinase (CK) elevation associated with myalgia, muscle edema, and/or weakness. The study aimed to determine the role of electrodiagnostic (EDX) testing relative to genetic testing and muscle biopsy in patients with unprovoked rhabdomyolysis in identifying an underlying myopathy.MethodsEDX database was reviewed to identify unprovoked rhabdomyolysis patients who underwent EDX testing between January 2012 and January 2022. Each patient's clinical profile, EDX findings, muscle pathology, laboratory, and genetic testing results were analyzed.ResultsOf 66 patients identified, 32 had myopathic electromyography (EMG). Muscle biopsy and genetic testing were performed in 41 and 37 patients, respectively. A definitive diagnosis was achieved in 15 patients (11 myopathic EMG and 4 nonmyopathic EMG; p = .04) based on abnormal muscle biopsy (4/11 patients) or genetic testing (12/12 patients, encompassing 5 patients with normal muscle biopsy and 3 patients with nonmyopathic EMG). These included seven metabolic and eight nonmetabolic myopathies (five muscular dystrophies and three ryanodine receptor 1 [RYR1]‐myopathies). Patients were more likely to have baseline weakness (p < .01), elevated baseline CK (p < .01), and nonmetabolic myopathies (p = .03) when myopathic EMG was identified.DiscussionMyopathic EMG occurred in approximately half of patients with unprovoked rhabdomyolysis, more likely in patients with weakness and elevated CK at baseline. Although patients with myopathic EMG were more likely to have nonmetabolic myopathies, nonmyopathic EMG did not exclude myopathy, and genetic testing was primarily helpful to identify an underlying myopathy. Genetic testing should likely be first‐tier diagnostic testing following unprovoked rhabdomyolysis.

Purpose: Complex repetitive discharges (CRDs) are incompletely understood needle electromyography (EMG) waveforms seen in both myopathic and neurogenic disorders including radiculopathies. This study aimed to clarify the significance of CRDs in patients with radiculopathies. Methods: This case–control study randomly identified 100 patients with needle EMG evidence of radiculopathy demonstrating at least one CRD in the electrodiagnostically involved myotome between January 2017 and January 2022. These patients were compared with 100 randomly selected patients with EMG evidence of radiculopathy without CRDs controlled for sex, age at EMG testing, and affected nerve root segment. Patient clinical symptoms, neurologic examination, EMG features, and imaging were analyzed. A paired sample t-test for categorial data and χ2 test for nonparametric data were used for statistical analysis with significance defined as P < 0.05. Results: Patients with radiculopathies with CRDs had longer disease duration averaging 59 months (range 1–480) compared with patients with radiculopathies without CRDs averaging 26 months (range 1–192, P < 0.01). Clinical symptoms of paresthesias and weakness were both significantly more common in patients with radiculopathies with CRDs than those without CRDs (P < 0.01 and 0.01, respectively). Needle EMG demonstrated a greater average number of muscles with neurogenic motor unit potentials per radiculopathy in patients with radiculopathies with CRDs compared with those without CRDs. Imaging studies of patients with radiculopathies with CRDs were more likely to reveal evidence of nerve root compression (P < 0.01). Conclusions: The presence of CRDs in patients with radiculopathies is consistent with clinically more symptomatic radiculopathies and a longer duration of nerve root compromise.

Abstract Objectives Symptomatic myopathy in sarcoidosis patients is not always due to sarcoid myopathy (ScM). We investigated the clinical and pathological spectrum including myxovirus resistance protein A (MxA) expression among sarcoidosis patients. Methods We reviewed the Mayo Clinic database (May 1980–December 2020) to identify sarcoidosis patients with myopathic symptoms and pathological evidence of myopathy. Results Among 5885 sarcoidosis patients, 21 had symptomatic myopathy. Eight carried a diagnosis of sarcoidosis 5.5 years (median) prior to myopathy onset. Eleven patients had ScM. The remaining had non-sarcoid myopathies (five IBM, one immune-mediated necrotizing myopathy, one non-specific myositis, two non-specific myopathy and one steroid myopathy). Estimated frequency of IBM is 85 per 100 000 sarcoidosis patients. The following features were associated with non-sarcoid myopathies (P &lt; 0.05): (i) predominant finger flexor and quadriceps weakness, (ii) modified Rankin scale (mRS) &gt;2 at time of diagnosis, (iii) creatine kinase &gt;500 U/l, and (iv) absence of intramuscular granulomas. Sarcoplasmic MxA expression was observed in scattered myofibres in three patients, two of whom were tested for DM-specific autoantibodies and were negative. Immunosuppressive therapy led to improvement in mRS ≥1 in 5/10 ScM, none of the five IBM, and 3/3 remaining patients with non-sarcoid myopathies. Discussion Symptomatic myopathy occurred in 0.36% of sarcoidosis. IBM was the second most common cause of myopathies after ScM. Frequency of IBM in sarcoidosis is higher than in the general population. Recognition of features suggestive of alternative aetiologies can guide proper treatment. Our findings of abnormal MxA expression warrant a larger study.

AbstractIntroduction/AimsComplex repetitive discharges (CRDs) are spontaneous electromyography (EMG) waveforms often associated with chronic neurogenic or myopathic diseases, but incidentally identified CRDs have also been described. In this study we describe the distribution and possible significance of incidentally seen CRDs in otherwise normal electrodiagnostic studies.MethodsA retrospective chart review was performed of all patients with CRDs incidentally documented on otherwise normal electrodiagnostic studies at Mayo Clinic from January 2013 through December 2020. Each patient's clinical symptoms, referral reason, electrodiagnostic report, and imaging studies were analyzed using descriptive statistics.ResultsNinety‐four patients (86 females; mean age, 62 years; range, 20 to 86 years) and 107 CRDs were studied. The most common neuromuscular reasons for electrodiagnostic referrals included radiculopathy, peripheral neuropathy, and myopathy. Mean symptom duration was 43 months (range, 1 to 312 months). Eighty‐five patients had a CRD identified in one muscle (range, in all patients, one to five muscles). CRDs were identified most frequently in tensor fasciae latae (n = 21), biceps brachii (n = 16), and gluteus maximus (n = 9). Of the 58 patients in whom imaging was available, 46 (79%) had abnormalities that corresponded to the myotome in which the CRDs were visualized, most commonly L5 (n = 19) and C6 (n = 12). Of these 46 patients, 28 (61%) were referred for radicular or limb pain.DiscussionCRDs can be incidentally noted on otherwise normal electrodiagnostic studies, most commonly in L5 and C6 myotomes. The mechanism of CRDs in the absence of electrodiagnostic features of axon loss or remodeling is unknown.