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  • 1.
    Askmark, H
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
    Carlson, M
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Roxin, L E
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Myoglobin in rat hind limb muscles after denervation and during reinnervation1984In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 7, no 8, p. 656-661Article in journal (Refereed)
    Abstract [en]

    Radioimmunoassay of myoglobin (Mb) was performed in rat hind limb muscles after surgical denervation and during reinnervation following cryolesion of the sciatic nerve. Muscles of the contralateral leg served as controls. After resection of the sciatic nerve, decreased Mb concentrations were noted on the fourth day in the tibialis anterior, peroneus longus, and extensor digitorum longus (EDL) muscles. Thereafter, the levels increased up to the last observation on day 32. The increases in Mb levels in the tibialis anterior and EDL muscles were considerably more pronounced (305% and 324%, respectively) than in the peroneus longus and soleus muscles (148% and 137%, respectively). After cryolesion of the sciatic nerve, the Mb concentrations in the tibialis anterior, peroneus longus, and EDL muscles increased, reaching maximal values on days 16-21. The levels then decreased and normal values were observed 2 months postoperatively. The normalization of the Mb levels during reinnervation corresponded fairly well in time with the clinical recovery and neurophysiological findings observed in a previous study.

  • 2.
    Axelson, Hans W
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Melberg, Atle
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
    Ronquist, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Askmark, Håkan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
    Microdialysis and electromyography of experimental muscle fatigue in healthy volunteers and patients with mitochondrial myopathy2002In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 26, no 4, p. 520-526Article in journal (Refereed)
    Abstract [en]

    Consecutive 60-min microdialysis samples were taken from the tibial anterior muscle in 11 healthy subjects and 4 patients with mitochondrial myopathy before (2-3 samples) and after (3-4 samples, 2 controls and 1 patient excluded) sustained isometric foot dorsiflexions. Before exercise, mean concentrations of lactate, pyruvate, hypoxanthine, urate, aspartate, and glutamate did not significantly differ between controls and patients. After exercise, the controls showed significantly increased concentrations of lactate, pyruvate, and urate, decreased hypoxanthine, and no change in aspartate and glutamate. Similar findings were observed in the patients. Plasma lactate was unchanged. Exercise-induced increase in integrated electromyogram amplitude and rated subjective fatigue were correlated to increased post-exercise lactate concentrations, with no obvious difference between the groups. Microdialysis of skeletal muscle allows the detection and monitoring of biochemical changes in the interstitial space. With the exercise protocol used, however, it was not possible to demonstrate any biochemical difference between healthy controls and patients with mitochondrial myopathy.

  • 3.
    Chroni, Elisabeth
    et al.
    Univ Patras, Sch Med, Dept Neurol, Patras 26504, Rion, Greece.
    Tendero, Isabel Serrano
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology. Autonomous Univ Barcelona, Dept Clin Neurophysiol, Vall dHebron Univ Hosp, Barcelona, Spain.
    Punga, Anna Rostedt
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Usefulness of assessing repeater F-waves in routine studies2012In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 45, no 4, p. 477-485Article in journal (Refereed)
    Abstract [en]

    INTRODUCTION: Repeater F-waves are sometimes seen in routine studies.

    METHODS: We retrospectively reviewed the clinical significance of repeater F-waves in median, ulnar, and fibular nerve recordings in 50 healthy subjects and groups of 50 patients each with diabetic polyneuropathy, amyotrophic lateral sclerosis, carpal tunnel syndrome, ulnar mononeuropathy, and L5 root lesion. The number of identical F-waves and their repetitions in samples of 20 stimuli were estimated.

    RESULTS: Repeater F-waves occurred significantly more frequently in all nerves and patient groups than in healthy individuals. Their persistence was negatively correlated with that of non-repeater F-waves.

    CONCLUSIONS: Based on the presented material and recording condition it appears that repeater F-waves differentiate between health and disease but not between different types of pathology of motor neurons or their axons. Even in routinely recorded samples of 20 traces, the index of repeater all F-waves could be used as a sign of nerve pathology.

  • 4. Higashihara, Mana
    et al.
    Sonoo, Masahiro
    Yamamoto, Tomotaka
    Nagashima, Yu
    Uesugi, Haruo
    Terao, Yasuo
    Ugawa, Yoshikazu
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Tsuji, Shoji
    Evaluation of spinal and bulbar muscular atrophy by the clustering index method2011In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 44, no 4, p. 539-546Article in journal (Refereed)
    Abstract [en]

    Introduction: A reliable electrophysiological marker for clinical trials is increasingly needed in spinal and bulbar muscular atrophy (SBMA). We previously developed a quantitative analysis method for surface electromyography (SEMG), the clustering index (CI) method. Our purpose was to test the utility of the CI method for evaluating lower motor neuron involvement in SBMA patients.

    Methods: Subjects included 29 SBMA patients and 27 healthy controls. The recording electrode was placed over the abductor digiti minimi (ADM) muscle with a proximal reference. The Z-score, based on the CI method, was compared with compound muscle action potential (CMAP) amplitude and motor unit number estimation (MUNE), with regard to sensitivity.

    Results: The Z-scores of the CI method, CMAP amplitude, and MUNE were abnormal in 100%, 72%, and 93% of the patients, respectively. Interrater reliability of the CI method was sufficiently high.

    Conclusion: The CI method is promising as a non-invasive electrophysiological marker in SBMA.

  • 5. Hokkoku, Keiichi
    et al.
    Sonoo, Masahiro
    Higashihara, Mana
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Shimizu, Teruo
    Electromyographs of the flexor digitorum profundus muscle are useful for the diagnosis of inclusion body myositis2012In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 46, no 2, p. 181-186Article in journal (Refereed)
    Abstract [en]

    Introduction: The frequent observation of high-amplitude and long-duration motor unit potentials (MUPs) in inclusion body myositis (IBM) is problematic, because it may lead to a misdiagnosis of amyotrophic lateral sclerosis (ALS).

    Objective: To document the diagnostic utility of EMG from the flexor digitorum profundus (FDP) muscle for IBM. M

    ethods: Quantitative analyses of MUP parameters were performed in the FDP and biceps brachii (BB) muscles from 7 biopsy-confirmed IBM patients.

    Results: In the FDP muscle, all MUP parameters were significantly decreased in IBM patients, which indicated the predominance of low-amplitude and short-duration MUPs in this muscle. In the BB muscle, most parameters were increased, suggesting the frequent contamination of high-amplitude and long-duration MUPs.

    Conclusions: Low-amplitude MUPs in the FDP muscle indicate the presence of an advanced myopathy in this muscle that was extremely weak for all subjects. Examining the FDP muscle would reduce the chance of misdiagnosing IBM as ALS.

  • 6. Kouyoumdjian, Joao A.
    et al.
    Stålberg, Erik V.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Concentric needle jitter in stimulated frontalis in 20 healthy subjects2012In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 45, no 2, p. 276-278Article in journal (Refereed)
    Abstract [en]

    Normative data for jitter parameters using a disposable concentric needle have been presented in a few studies. Jitter, expressed as the mean consecutive difference (MCD), was measured in the frontalis muscle in 20 subjects by percutaneous bar stimulation of the temporal nerve branch. The mean MCD for individual studies (20) and for all potentials (600) were 16.05 +/- 2.73 mu s and 16.05 +/- 5.96 mu s, respectively. The suggested limit for mean MCD is 22 mu s and for outliers is 28 mu s.

  • 7. Kouyoumdjian, Joao A.
    et al.
    Stålberg, Erik V.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Concentric needle jitter on voluntary activated frontalis in 20 healthy subjects2013In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 47, no 3, p. 440-442Article in journal (Refereed)
    Abstract [en]

    Introduction: Normative data for jitter parameters using a disposable concentric needle have been described in a few studies. Methods: Jitter, expressed as the mean consecutive difference (MCD), was measured in the frontalis muscle in 20 subjects by voluntary contraction. Results: Mean MCD for individual studies (20, Gaussian), all potentials (400, non-Gaussian), and 18th highest value (20, Gaussian) were 19.9 +/- 2.9 s, 19.9 +/- 6.6 s, and 26.9 +/- 4.4 s, respectively. Conclusion: The suggested upper normal limit for mean MCD is 26 s and for outliers is 36 s.

  • 8. Kouyoumdjian, Joao Aris
    et al.
    da Silva Fanani, Adriana Cristina
    Stålberg, Erik V.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Concentric needle jitter on stimulated frontalis and extensor digitorum in 20 myasthenia gravis patients2011In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 44, no 6, p. 912-918Article in journal (Refereed)
    Abstract [en]

    Introduction: Our objective was to study jitter parameters using a concentric needle electrode (CNE) in the extensor digitorum (ED) and frontalis (FR) muscles. Methods: Twenty myasthenia gravis (MG) patients, mean age 44.5 years, were studied. Percutaneous (FR) and intramuscular needle (ED) stimulation approaches were used. Jitter was expressed as the mean consecutive difference (MCD). The filter settings were from 1000 HZ to 10 kHZ. Results: Abnormal MCD was found in 85% for both ED and FR and in 90% when combining the two muscles. An abnormal percentage of outliers was found in 90% for ED and 85% for FR. The mean MCD did not show a difference for ED and FR, but the percentage of outliers and blocking were higher in FR. Abnormality was found in 93.7% (generalized) and in 75% (ocular) of MG cases. For ED outliers abnormality was greater than the MCD. Conclusion: CNE jitter is reliable for investigation of MG, although borderline findings should be judged with caution.

  • 9. Kouyoumdjian, João Aris
    et al.
    Stålberg, Erik V.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Reference jitter values for concentric needle electrodes in voluntarily activated extensor digitorum communis and orbicularis oculi muscles.2008In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 37, no 6, p. 694-699Article in journal (Refereed)
    Abstract [en]

    The aim of this study was to estimate normal jitter in voluntarily activated extensor digitorum communis (EDC) and orbicularis oculi (OOc) muscles using a disposable concentric needle electrode (CNE). The EDC of 67 normal subjects (22 males and 45 females, mean age 35.5 ± 10.2 years) and the OOc of 50 normal subjects (13 males and 37 females, mean age 37.9 ± 9.6 years) were studied. Jitter values were expressed as the mean consecutive difference (MCD) of 20 potential pairs. The mean MCD for EDC was 23.6 ± 3.1 µs (upper 95% confidence limit [CL]: 29.7 µs). The mean MCD of all potential pairs (n = 1340) was 23.5  ± 7.3 µs (95% CL: 38.2 µs). The mean MCD for the 18th highest value was 31.4 ± 4.9 µs (95% CL: 41.2 µs). The mean MCD for OOc was 24.7 ± 3.1 µs (95% CL: 31.0 µs). The mean MCD of all potential pairs (n = 1000) was 24.7 ± 7.1 µs (95% CL: 39.0 µs). The mean MCD for the 18th highest value was 32.7 ± 4.1 µs (95% CL: 40.9 µs). Our reported CNE jitter values obtained during voluntary activation represent the largest series currently available. The suggested practical limit in the EDC for mean MCD was 30 µs and for outliers was 42 µs, and in the OOc for mean MCD was 31 µs and 41 µs for outliers. The present study confirms that CNE can be used to assess jitter values, although certain precautions must be taken.

  • 10.
    Marrero, Humberto Gonzalez
    et al.
    Karolinska Inst, Dept Clin Neurosci, Clin Neurophysiol Sect, Stockholm, Sweden.
    Stålberg, Erik V
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Optimizing testing methods and collection of reference data for differentiating critical illness polyneuropathy from critical illness myopathy.2016In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 53, no 4, p. 555-563Article in journal (Refereed)
    Abstract [en]

    INTRODUCTION: In severe acute quadriplegic myopathy in intensive care unit (ICU) patients, muscle fibers are electrically inexcitable; in critical illness polyneuropathy the excitability remains normal. Conventional electrodiagnostic methods do not provide the means to adequately differentiate between them.

    OBJECTIVE: To further optimize methodology for the study of critically ill ICU patients and to create a reference database in healthy controls.

    METHODS: Different electrophysiologic protocols were tested to find sufficiently robust and reproducible techniques for clinical diagnostic applications.

    RESULTS: Many parameters show large test-retest variability within the same healthy subject. Reference values have been collected and described as a basis for studies of weakness in critical illness.

    DISCUSSION: Using the ratio of neCMAP/dmCMAP (response from nerve and direct muscle stimulation), refractory period, and stimulus-response curves may optimize the electrodiagnostic differentiation of patients with critical illness myopathy from those with critical illness polyneuropathy.

  • 11.
    Martinez-Aparicio, Carmen
    et al.
    Univ Granada, Doctoral Programme Med & Publ Hlth, Granada, Spain;Vithas Virgen Mar Hosp, Dept Clin Neurophysiol, Almeria, Spain.
    Jääskeläinen, Satu K.
    Turku Univ Hosp, Dept Clin Neurophysiol, Turku, Finland; Univ Turku, Turku, Finland.
    Muyor, José M.
    Univ Almeria, Res Cent Serv, Lab Kinesiol Biomech & Ergon KIBIOMER, Almeria, Spain.
    Falck, Björn
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Nerve conduction study of the three supraclavicular nerve branches2018In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 58, no 2, p. 300-303Article in journal (Refereed)
    Abstract [en]

    Introduction: We describe a new nerve conduction study technique with reference values for the 3 branches of the supraclavicular nerve (SCN) in young healthy subjects and application of it in 2 patients.

    Methods: The recording electrode was placed on the posterior border of the sternocleidomastoid muscle, 6–7 cm from the sternoclavicular joint. SCN branches were stimulated below the clavicle, 2.5, 7, and 10.5 cm lateral to the sternoclavicular joint.

    Results: Twenty healthy volunteers (10 men), 19–38 years, mean 25.9 years (SD 6.3), and 2 patients with SCN lesions were studied. The mean conduction velocities of the SCN branches were 70–78 m/s (SD 8–10 m/s), and amplitudes 3–4 µV (SD 0.9–2.0 µV). There were no side‐to‐side or gender differences.

    Discussion: The 3 SCN branches could be studied in all subjects. We provide reference values for young subjects. This new method was useful in verifying SCN lesions in 2 patients.

  • 12.
    Melberg, Atle
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
    Arnell, H.
    Dahl, N.
    Stålberg, E.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
    Raininko, Raili
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Oncology, Radiology and Clinical Immunology.
    Oldfors, A.
    Bakall, B.
    Lundberg, Per Olov
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
    Holme, E.
    Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism1996In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 19, no 12, p. 1561-9Article in journal (Refereed)
    Abstract [en]

    A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family. Muscle biopsy samples of advanced cases showed ragged-red fibers, focal cytochrome c oxidase deficiency, and multiple mtDNA deletions by Southern blot analysis. An autosomal dominant mode of inheritance was evident with anticipation in successive generations. Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence for anticipation in a family with autosomal dominant progressive external ophthalmoplegia. We hypothesize that the nuclear gene causing this enigmatic disorder may be directly influenced by an expansion of an unstable DNA sequence and that the resulting phenotype is caused by a concerted action with multiple deletions of mtDNA.

  • 13.
    Nandedkar, Sanjeev D.
    et al.
    Natus Med Inc, Hopewell Jct, NY USA.
    Barkhaus, Paul E.
    Med Coll Wisconsin, Milwaukee, WI 53226 USA.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology. Univ Hosp, Uppsala, Sweden.
    Neuwirth, Christoph
    Kantonsspital St Gallen, St Gallen, Switzerland.
    Weber, Markus
    Kantonsspital St Gallen, St Gallen, Switzerland.
    Motor unit number index: Guidelines for recording signals and their analysis2018In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 58, no 3, p. 374-380Article in journal (Refereed)
    Abstract [en]

    Introduction: This study proposes guidelines for motor unit number index (MUNIX) recording and analysis. Methods: MUNIX was measured in control participants and in patients with amyotrophic lateral sclerosis. Changes in MUNIX values due to E1 electrode position, number of surface electromyography interference pattern (SIP) epochs, SIP epoch duration, force of contraction, and outlier data points were investigated. Results: MUNIX depends on optimized compound muscle action potential (CMAP) amplitude. Individual muscles showed variations when the number of epochs was low or when the SIP duration was short. Longer SIP duration allowed better recognition of artifacts. MUNIX results were affected by SIP values at all force levels but was more affected when SIP area was low. Discussion: We recommend changing the E1 electrode position to maximize CMAP amplitude. Twenty or more SIP signals of 500-ms duration should be recorded by using force levels ranging from slight to maximum. Traces should be reviewed to identify and exclude signals with tremor or solitary spikes.

  • 14. Nandedkar, Sanjeev D.
    et al.
    Barkhaus, Paul E.
    Stålberg, Erik V.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Motor unit number index (MUNIX): principle, method, and findings in healthy subjects and in patients with motor neuron disease2010In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 42, no 5, p. 798-807Article in journal (Refereed)
    Abstract [en]

    The motor unit number index (MUNIX) is a method for assessment of number and size (MUSIX) of motor units (MUs) using the compound muscle action potential (CMAP) and surface electromyographic interference pattern (SIP). This method was used to study the hypothenar muscle in 34 healthy subjects to define normal range, and to study reproducibility. Four healthy subjects and 13 patients with amyotrophic lateral sclerosis (ALS) were studied serially over a 1-year period. In healthy subjects, MUNIX showed good reproducibility. In serial studies, healthy subjects showed no change in the CMAP amplitude and MUNIX. ALS patients with minimal change in CMAP amplitude had a significant drop in MUNIX and increase in MUSIX, indicating MU loss compensated by reinnervation. When the CMAP changed significantly (>30%) in 1 year, the CMAP and MUNIX decreased in parallel. MUNIX would be useful to study MU loss in degenerative diseases of motor neurons.

  • 15. Nandedkar, Sanjeev D.
    et al.
    Barkhaus, Paul E.
    Stålberg, Erik V.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Reproducibility of munix in patients with amyotrophic lateral sclerosis2011In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 44, no 6, p. 919-922Article in journal (Refereed)
    Abstract [en]

    Introduction: In this study we investigated the reproducibility of motor unit number index (MUNIX) in patients with amyotrophic lateral sclerosis (ALS). Methods: MUNIX was recorded in patients with ALS. Studies were performed in 18 thenar and 18 hypothenar muscles by two operators. The reproducibility was assessed using mean MUNIX values, linear regression, correlation coefficient, and coefficient of variation (COV) in individual studies. Results: The mean values showed no significant difference. The linear regression showed a strong correlation. Most patients had low COV. A high COV was seen when MUNIX was very low. The COV was higher in thenar than in hypothenar muscles. Conclusions: MUNIX has very good reproducibility in ALS patients. COV may exaggerate interoperator variation when MUNIX is very low. The higher variability in the thenar muscle is also due to variability in compound muscle action potential amplitude. Although both muscles show good reproducibility, the hypothenar is better suited for serial studies in individual patients.

  • 16.
    Nandedkar, Sanjeev D.
    et al.
    Natus Medical Inc, New York.
    Sanders, Donald B.
    Duke University, Medical Center, Department of Neurology.
    Hobson-Webb, Lisa D.
    Duke University, Medical Center, Department of Neurology.
    Billakota, Santoshi
    Duke University, Medical Center, Department of Neurology.
    Barkhaus, Paul E.
    Medical College of Wisconsin, Department of Neurology.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    THE EXTRAPOLATED REFERENCE VALUES PROCEDURE: THEORY, ALGORITHM, AND RESULTS IN PATIENTS AND CONTROL SUBJECTS2018In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 57, no 1, p. 90-95Article in journal (Refereed)
    Abstract [en]

    Introduction: Reference values (RVs) are required to separate normal from abnormal values obtained in electrodiagnostic (EDx) testing. However, it is frequently impractical to perform studies on control subjects to obtain RVs. The Extrapolated Reference Values (E-Ref) procedure extracts RVs from data obtained during clinically indicated EDx testing. We compared the E-Ref results with established RVs in several sets of EDx data.

    Methods: The mathematical basis for E-Ref was explored to develop an algorithm for the E-Ref procedure. To test the validity of this algorithm, it was applied to simulated and real jitter measurements from control subjects and patients with myasthenia gravis, and to nerve conduction studies from patients with various conditions referred for EDx studies.

    Results: There was good concordance between E-Ref and RVs for all evaluated data sets.

    Discussion: E-Ref is a promising method to develop RVs.

  • 17.
    Nandedkar, Sanjeev D.
    et al.
    Natus Med Inc, Hopewell Jct, NY USA.
    Sanders, Donald B.
    Duke Univ, Med Ctr, Durham, NC USA.
    Hobson-Webb, Lisa D.
    Duke Univ, Med Ctr, Durham, NC USA.
    Billlakota, Santoshi
    Duke Univ, Med Ctr, Durham, NC USA.
    Barkhaus, Paul E.
    Med Coll Wisconsin, Milwaukee, WI 53226 USA.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Estimation of Reference Intervals for Transcranial Magnetic Stimulation: Derived Parameters Via the Hoffman Indirect Method Reply2018In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 58, no 4, p. E31-E32Article in journal (Other academic)
  • 18. Neuwirth, Christoph
    et al.
    Nandedkar, Sanjeev
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Weber, Markus
    Motor Unit Number Index (MUNIX): A novel neurophysiological technique to follow disease progression in amyotrophic lateral sclerosis2010In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 42, no 3, p. 379-384Article in journal (Refereed)
    Abstract [en]

    Motor unit number estimation techniques in amyotrophic lateral sclerosis (ALS) patients are technically challenging and time-consuming. The Motor Unit Number Index (MUNIX) is a novel technique based on surface-EMG recordings and requires only 3-5 minutes per muscle. The objective was to explore the feasibility of longitudinal MUNIX measurements in ALS patients. In seven patients enrolled in a clinical trial, eight muscles were studied every 2 months for up to 15 months in addition to the revised ALS-functional rating scale, slow vital capacity, and compound muscle action potentials. The method was well tolerated and easy to perform. Initial MUNIX measures were significantly reduced compared to controls (487 +/- 194 vs. 1459 113; P < 0.001). Relative drop from baseline paralleled the clinical course and was greater than the drop of other markers of disease progression. MUNIX measurements in multiple muscles are suitable for serial neurophysiologic investigations in ALS. Further longitudinal data are needed for reliability validation.

  • 19.
    Nordgren, Bengt
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Rehabilitation Medicine.
    Falck, Björk
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Ronquist, Gunnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Clinical Chemistry.
    Waldenström, A
    Ahlström, Håkan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Radiology, Oncology and Radiation Science, Radiology.
    Hemmingson, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Radiology, Oncology and Radiation Science, Radiology.
    Postpolio muscular dysfunction: relationships between muscle energy metabolism, subjective symptoms, magnetic resonance imaging, electromyography, and muscle strength1997In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 20, no 11, p. 1341-1351Article in journal (Refereed)
    Abstract [en]

    Eleven patients with previous polio were studied. The concentration of energy-related metabolites and energy charge was measured from the vastus lateralis muscle, as was isometric muscle strength of knee extension. Cross-sectional area of the quadriceps femoris muscle was calculated from magnetic resonance imaging. Reinnervation was studied using macroelectromyography. Muscle weakness, pain, and newly acquired muscle weakness in the legs was estimated by the patients. The findings in the legs in which the patients experienced new loss of muscle function were compared with the stable legs. There were no significant differences between these groups in any of the objectively measured variables. Only hip pain correlated with new loss of muscle function. Creatine phosphate was decreased in 5 patients. The symptoms and subjective muscle strength did not correlate with any of the objective measurements. There were no significant relationships between energy-related metabolites and postpolio symptoms.

  • 20.
    Nygren, Ingela
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
    Fagius, Jan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
    High resting level and weak response of baroreflex-governed sympathetic outflow in amyotrophic lateral sclerosis2011In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 43, no 3, p. 432-440Article in journal (Refereed)
    Abstract [en]

    Both altered sympathetic function and insulin resistance have been observed in amyotrophic lateral sclerosis (ALS). Insulin is a sympathetic stimulator. We recorded muscle sympathetic nerve activity (MSNA) by microneurography in 9 patients with ALS and 9 healthy controls during rest. We also initiated a number of sympathoexcitatory maneuvers, including intake of 100 g of glucose. Patients showed reduced glucose tolerance and a higher heart rate and higher level of MSNA at rest than controls (61.0 ± 15.2 vs. 41.2 ± 5.8 bursts/min, P = 0.006); baroreflex inhibitory influence was present. In contrast, MSNA in ALS patients responded more weakly to maneuvers. This inverse relationship is interpreted as a "ceiling effect," as ALS patients use nearly maximal MSNA capacity already at rest and do not have sympathetic failure. The increased level of MSNA may be a primary feature of ALS, but insulin stimulation may also contribute. Our findings are assessed in relation to previous, sometimes seemingly contradictory observations.

  • 21. Padua, Luca
    et al.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Caliandro, Pietro
    Muscogiuri, Giovanna
    Pazzaglia, Costanza
    Sorice, Gian Pio
    Granata, Giuseppe
    Salomone, Enrica
    Pontecorvi, Alfredo
    Giaccari, Andrea
    Single-fiber conduction velocity test allows earlier detection of abnormalities in diabetes2011In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 43, no 5, p. 652-656Article in journal (Refereed)
    Abstract [en]

    Introduction: The purpose of this study was to determine whether single-fiber conduction velocity (SF-CV) of a small number of axons increases sensitivity for identification of motor nerve conduction alterations in patients with diabetes. Methods: Twenty-one consecutive diabetic patients in good metabolic control were studied. For each patient, conventional (C-CV) and SF-CV results were correlated with the presence of neuropathic symptoms. Results: Nine of 21 patients reported symptoms suggestive of mild nerve impairment. Three patients had abnormal sural nerve CV, 1 of whom also had abnormal motor nerve conduction. Eighteen patients had normal findings on conventional tests, 3 of whom had slowing of SF-CV. Conclusions: SF-CV is able to detect mild myelin damage with higher sensitivity than conventional tests. The use of SF-CV may be a helpful tool in the early identification of diabetic polyneuropathy, and it may be useful for tailoring an approach to diabetic polyneuropathy.

  • 22.
    Rostedt Punga, Anna
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Flink, Roland
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Askmark, Håkan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Cholinergic neuromuscular hyperactivity in patients with myasthenia gravis seropositive for MuSK antibody2006In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 34, no 1, p. 111-115Article in journal (Refereed)
    Abstract [en]

    A 75-year-old man with severe oculobulbar myasthenia gravis (MG) treated with acetylcholine esterase inhibitors (AChEIs) was found to have muscle-specific tyrosine kinase (MuSK) antibodies. Neurophysiological examination displayed extra repetitive discharges after the compound motor action potential (CMAP) at low-frequency stimulation, possibly triggered by AChEI. This indicates an abnormal sensitivity to acetylcholine in patients with MuSK antibodies and may be a useful indicator of the adverse effect of AChEI treatment in these patients. Muscle Nerve, 2006

  • 23.
    Rostedt Punga, Anna
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
    Sawada, Mikio
    Stålberg, Erik V
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
    Electrophysiological signs and the prevalence of adverse effects of acetylcholinesterase inhibitors in patients with myasthenia gravis2007In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 37, no 3, p. 300-307Article in journal (Refereed)
    Abstract [en]

    The aim of this prospective study was to assess whether extra discharges (EDs), sometimes following the compound muscle action potential, could be used as a neurophysiological indicator of overdose of acetylcholinesterase inhibitors (AChEIs) in patients with myasthenia gravis (MG). The characteristics and frequency of EDs were explored and the correlation of EDs with cholinergic side effects was also determined. Twenty-two MG patients (14 women, 8 men; 61 ± 16 years of age) with daily AChEI treatment were examined. The mean disease duration was 10 years (range 2-62 years) and all patients had been treated with AChEI since MG onset. Both single and repetitive stimulation of the ulnar and accessory nerves were performed before and 60 min after oral pyridostigmine bromide (PB) administration and after additional edrophonium injection. Fatigue, side effects, and AChE activity in blood were assessed before and 60 min after PB intake. The daily dose of PB ranged from 150 to 900 mg/day. Fourteen patients (64%) experienced daily cholinergic adverse effects, and muscarinic side effects correlated with AChE activity. Eleven patients (50%) developed EDs after oral PB. Among the eight patients with daily nicotinic side effects, EDs were significantly (P < 0.05) more common. Additionally, older patients were more prone to develop cholinergic side effects and EDs. Thus, when EDs are found, patients should be asked about daily muscular symptoms, which may be related to AChEI treatment and not solely to MG. Muscle Nerve, 2007

  • 24.
    Rostedt Punga, Anna
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Acetylcholinesterase inhibitors in myasthenia gravis: to be or not to be?2009In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 39, no 6, p. 724-728Article, review/survey (Refereed)
    Abstract [en]

    Myasthenia gravis (MG) is an autoimmune disorder usually caused by antibodies against either the acetylcholine receptor (AChR) or muscle-specific tyrosine kinase (MuSK) at the neuromuscular junction. Neuromuscular transmission failure results in muscle fatigue and weakness that can be treated symptomatically with acetylcholinesterase inhibitors (AChEIs). Long-term treatment with nonselective AChEIs may have considerable drawbacks; thus, this medication is ideally tapered when strength improves. Patients with AChR antibodies respond beneficially to treatment, whereas patients with MuSK antibodies generally do not. Recently, the selective AChEI EN101, which specifically targets the isoform of "read-through" AChE (AChE-R), has been developed and may be of importance for symptomatic relief in AChR-antibody seropositive MG. This article is a review of the mechanisms, therapeutic effects, and drawbacks, with both old and new AChEIs in MG.

  • 25.
    Sandberg, Arne
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Nandedkar, Sanjeev D.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Macro electromyography and motor unit number index in the tibialis anterior muscle: Differences and similarities in characterizing motor unit properties in prior polio2011In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 43, no 3, p. 335-341Article in journal (Refereed)
    Abstract [en]

    Our objective was to establish the usefulness of the noninvasive method of the motor unit number index (MUNIX) in a large muscle and to study how macro electromyography (EMG) and MUNIX complement each other in describing the motor units (MUs) in prior polio. MUNIX and macro EMG were performed in 48 tibialis anterior muscles in 33 prior polio patients. In addition, the reproducibility of MUNIX was investigated. It is shown that MUNIX can be used to characterize MUs with high reproducibility, even in a large muscle. As judged by MUNIX values, the patients had a 25% reduction of motor neurons, whereas the macro EMG indicated a loss of 60% of the neurons. Macro EMG showed more pronounced changes compared with control material than the MUNIX. One of the reasons for this finding may be the difference in MU populations studied with the two methods.

  • 26.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Macro electromyography: An update2011In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 44, no 2, p. 292-302Article in journal (Refereed)
    Abstract [en]

    The macro electromyography method was developed in the 1980s. Since then, technical modifications have been made, and a number of conditions have been explored. This study is a methodological introduction and an update of findings in some nerve-muscle disorders. The spike component of a motor unit potential (MUP) recorded by a concentric or monopolar needle electromyography (EMG) electrode is generated primarily by fibers within 1-2 mm of the needle recording area. Given that a MUP's typical anatomical reach is 5-15 mm in diameter, it follows that conventional EMG is unable to record activity from the entire motor unit. Such information could promote understanding of muscle in health and disease. Macro EMG, with its large recording area, appears to provide this information by recording the activity from most of the fibers in a given motor unit. The value of combining macro EMG with single-fiber EMG and conventional EMG recordings is discussed.

  • 27.
    Stålberg, Erik
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Sanders, Donald B
    Ali, Sajjad
    Cooray, Gerald
    Leonardis, Lea
    Löseth, Sissel
    Machado, Flavia
    Maldonado, Antonio
    Martinez-Aparicio, Carmen
    Sandberg, Arne
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Smith, Benn
    Widenfalk, Johan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Aris Kouyoumdjian, João
    Reference values for jitter recorded by concentric needle electrodes in healthy controls: A multicenter study.2016In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 53, no 3, p. 351-362Article in journal (Refereed)
    Abstract [en]

    INTRODUCTION: The aim of this study was to create reference values for jitter measured with concentric needle electrodes.

    METHODS: Operators worldwide contributed recordings from orbicularis oculi (OO), frontalis (FR), and extensor digitorum (ED) muscles in healthy controls. Criteria for acceptable signal quality were agreed upon in advance. Fifteen or 20 recordings of acceptable quality from each muscle were required for voluntary and electrical stimulation recordings, respectively.

    RESULTS: Recordings from 59 to 92 subjects were obtained for each muscle and activation type. Outlier limits for mean consecutive difference and individual jitter data for voluntary activation were: OO, 31 and 45 µs; FR, 28 and 38 µs; ED, 30 and 43 µs; and for electrical stimulation they were: OO, 27 and 36 µs; FR, 21 and 28 µs; ED, 24 and 35 µs.

    CONCLUSION: Reference jitter values from concentric needle electrode recordings were developed from signals of defined quality while seeking to avoid creating supernormal values.

  • 28.
    Stålberg, Erik V.
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Sanders, Donald B
    Jitter recordings with concentric needle electrodes2009In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 40, no 3, p. 331-339Article, review/survey (Refereed)
    Abstract [en]

    Neuromuscular jitter is generally recorded with a single fiber (SF) electromyography (EMG) electrode. Due to concern about using reusable needle electrodes, an acceptable alternative for the SF electrode has been sought. This is a review of the issues involved in using disposable concentric needle (CN) electrodes to measure jitter. Signals recorded with CN electrodes frequently represent the summation of many single fiber action potentials, which will decrease the apparent jitter. The influence of these artifacts on the final result also depends on the analysis method. Reference values obtained with CN electrodes correlate with SF EMG values, but they are a few microseconds lower. Overall results show that the CN method is a good alternative to SFEMG and will facilitate the use of jitter analysis. The results must be interpreted with caution, particularly in borderline cases, but they may be acceptable for clinical use when SF electrodes cannot be used.

  • 29.
    Sundblom, Jimmy
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
    Melberg, Atle
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
    Bedside diagnosis of rippling muscle disease reply2011In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 43, no 1, p. 144-Article in journal (Refereed)
  • 30.
    Sundblom, Jimmy
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
    Stålberg, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Österdahl, Maria
    Rücker, Franz
    Montelius, Maria
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Kalimo, Hannu
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Pathology.
    Nennesmo, Inger
    Islander, Gunilla
    Smits, Anja
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
    Dahl, Niklas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Melberg, Atle
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology.
    Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers2010In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 41, no 6, p. 751-757Article in journal (Refereed)
    Abstract [en]

    Thirty-nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype-phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individuals. Twenty-three patients had percussion-induced muscle mounding (PIMM) and percussion-induced rapid contractions (PIRC). Rippling and hyperCKemia were not found in all patients. Weakness was minor or absent. The electromyogram showed absence of electrical activity in ripples and PIMM, and muscle biopsy specimens confirmed caveolin-3 deficiency and absence of caveolae. Genetic analysis revealed a CAV3 c.G136A transition resulting in a p.A46T missense mutation in affected family members. The phenotype in these 23 cases of RMD with this mutation appears to be homogenous, benign, and nonprogressive. The presence of PIMM and PIRC seems to be diagnostic at all ages, whereas the absence of hyperCKemia and rippling does not exclude the diagnosis.

  • 31. Tilki, Hacer Erdem
    et al.
    Stålberg, Erik
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Neuroscience.
    Incesu, Lüfti
    Basoglu, Ahmet
    Bilateral neurogenic thoracic outlet syndrome2004In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 29, no 1, p. 147-150Article in journal (Refereed)
    Abstract [en]

    We report a case of bilateral neurogenic thoracic outlet syndrome (TOS). Electrophysiological examination suggested the presence of bilateral lower brachial plexus neuropathy. Radiography showed rudimentary bilateral cervical ribs. In the cases reported in the literature to date, the clinical findings are typically unilateral despite the common presence of bilateral bony abnormalities. Neurogenic TOS should be considered in young women, even if they present with bilateral symptoms, when they have occupations requiring strenuous activity of the upper limbs

  • 32.
    Torbergsen, Torberg
    et al.
    Univ Hosp North Norway, Dept Clin Neurophysiol, Tromso, Norway..
    Jurkat-Rott, Karin
    Univ Ulm, Div Neurophysiol, D-89069 Ulm, Germany.;Univ Ulm, Neuromuscular Ctr, D-89069 Ulm, Germany..
    Stalberg, Erik V.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Loseth, Sissel
    Univ Hosp North Norway, Dept Clin Neurophysiol, Tromso, Norway..
    Hodneo, Anne
    Vestfold Cty Hosp, Dept Neurol, Tonsberg, Norway..
    Lehmann-Horn, Frank
    Univ Ulm, Div Neurophysiol, D-89069 Ulm, Germany.;Univ Ulm, Neuromuscular Ctr, D-89069 Ulm, Germany..
    PAINFUL CRAMPS AND GIANT MYOTONIC DISCHARGES IN A FAMILY WITH THE NAV1.4-G1306A MUTATION2015In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 52, no 4, p. 680-683Article in journal (Refereed)
    Abstract [en]

    Introduction: Two previously reported Norwegian patients with painful muscle cramps and giant myotonic discharges were genotyped and compared with those of members of 21 families harboring the same mutation. Methods: Using primers specific for SCN4A and CLCN1, the DNA of the Norwegian family members was amplified and bidirectionally sequenced. Clinical and neurophysiological features of other families harboring the same mutation were studied. Results: A G1306A mutation in the Nav1.4 voltage-gated sodium channel of skeletal muscle was identified. This mutation is known to cause myotonia fluctuans. No giant myotonic discharges or painful muscle cramps were found in the other G1306A families. Conclusions: Ephaptic transmission between neighboring muscle fibers may not only cause the unusual size of the myotonic discharges in this family, but also a more severe type of potassium-aggravated myotonia than myotonia fluctuans.

  • 33.
    Westerberg, Elisabet
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology. Ryhov Cty Hosp, Dept Neurol, Jonkoping, Sweden.
    Molin, Carl Johan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Lindblad, Ida
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Emtner, Margareta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Physiotherapy. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Lung- allergy- and sleep research.
    Rostedt Punga, Anna
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Clinical Neurophysiology.
    Physical exercise in Myasthenia Gravis is safe and improves neuromuscular parameters and physical performance-based measures: A pilot study2017In: Muscle and Nerve, ISSN 0148-639X, E-ISSN 1097-4598, Vol. 56, no 2, p. 207-214Article in journal (Refereed)
    Abstract [en]

    INTRODUCTION: Due to the shortage of exercise-related research in Myasthenia Gravis (MG), there are no consensus guidelines on physical exercise for MG patients.

    METHODS: In this prospective pilot study, 10 MG patients with mild disease performed supervised aerobic and resistance training twice weekly for 12 weeks. The Myasthenia Gravis Composite (MGC) score, compound motor action potential (CMAP), repetitive nerve stimulation, muscle force, physical performance-based measures, serum levels of interleukin-6, muscle enzymes as well as immuno-microRNAs miR-150-5p and miR-21-5p were assessed before and after the training period.

    RESULTS: Physical exercise was well tolerated, and the MGC score was unchanged. Muscle resistance weights and CMAP amplitudes increased for biceps brachii and rectus femoris muscles, and physical performance-based measures improved. Muscle enzymes remained normal, whereas disease-specific microRNAs miR-150-5p and miR-21-5p were reduced after the training period.

    CONCLUSIONS: We propose that general recommendations regarding physical exercise safely can be applied to well-regulated MG patients.

1 - 33 of 33
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