C. Kay

Estudo da condução nervosa motora na doença de McArdle: relato de caso

McArdle disease (glycogenosis type V) is a metabolic myopathy with symptoms of exercise intolerance caused by deficiency of the enzyme myophosphorylase. In these patients, the motor nerve conduction studies after a short period of maximal voluntary muscle contraction or repetitive stimulation reveals characteristic findings of the disease. A 37-years-old man presented symptoms of exercise intolerance, muscular fatigue and cramps in the beginning of the physical activity with second wind phenomenon. The motor nerve conduction studies after a voluntary contraction of 30 and 90 seconds presented decrease in the amplitude of the compound muscle action potential in median, ulnar and deep peroneal nerves; and decrement after 200 stimulation at the 40 Hz in deep peroneal nerve. The electromyography presented myopathic pattern and during the ischemic exercise electric silence was not proven. The characteristic of electrophysiological studies are discussed with emphasis at the importance of the motor nerve conduction studies in the patients with suspicion of metabolic myopathy.

Estudo neurofisiológico na síndrome miastênica congênita do canal lento: relato de caso

The slow-channel syndrome is one of the congenital myasthenic syndromes attributed to inherited kinetic disorders of the ion channel of the acetylcholine receptor of the neuromuscular junction. This is a case report of 25-years-old man with progressive ptosis and limitation of ocular movements since infancy, presented a 6-years history of worse of the external ophthalmoparesis and muscular weakness in the shoulders and hands. The motor nerve conduction studies after a supramaximal single stimulus disclosed a double compound muscle action potential (CMAP) that disappeared after a voluntary contraction of 30 seconds. Repetitive stimulation of facial and spinal accessory nerves showed a CMAP decrement greater than 10% with disappeared of the second potential. The patient received fluoxetine with mild improvement of muscular weakness, but persisted with: ptosis, limitation of ocular movements and repetitive CMAP in the motor nerve conduction study. The characteristic of disease are discussed.

Acquired slow-channel syndrome

We report the case of a 37‐year‐old man with clinical and electrophysiological features of hereditary slow‐channel syndrome (SCS) and antibodies against acetylcholine receptors (AChR‐Abs). He presented with weakness of shoulder and hand muscles. A supramaximal single stimulus to the motor nerves disclosed a double compound muscle action potential (CMAP). Repetitive stimulation of ulnar, suprascapular, and median nerves showed a CMAP decrement greater than 10%. The patient responded to pyridostigmine. This report confirms the importance of AChR‐Ab titers in suspected cases of hereditary SCS because patients with positive AChR‐Abs may have a better response to available treatments.

Coexistence of primary sclerosing cholangitis in a patient with myasthenia gravis.

Myasthenia gravis (MG) is an immune-mediated disease that compromises the postsynaptic membrane of the neuromuscular junction. Primary sclerosing cholangitis (PSC) is considered an immune-mediated cholestatic liver disease. Both MG and PSC include an autoimmune pathogenesis, so there is some evidence that patients with MG or PSC have a higher risk of developing autoantibodies and other immune disorders than normal controls, but the coexistence of these two disorders has never been documented. We report a 40-year-old woman who presented with MG when she was 20 years old and developed PSC 20 years after a thymectomy. Liver biochemistry revealed cholestasis. Magnetic resonance imaging showed multifocal strictures and beads involving the intrahepatic bile ducts. A liver biopsy confirmed sclerosing cholangitis. Serological analysis demonstrated positive autoantibodies (Anti-nuclear antibodies, anti-smooth muscle antibodies). Repetitive stimulation had a decremental response, and antibodies to acetylcholine receptors were detectable. To our knowledge, this is the first case of PSC in a patient with MG. The main characteristics of both MG and PSC combination are discussed.

P599: McArdle disease: clinical features, electrophysiological studies, muscle biopsy and molecular genetics

s of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339 S211 P598 McArdle’s disease: electromyographic findings in a patient B. Díaz Montoya1,2, M. Saiz Sepúlveda2, M. Eimil Ortiz3, M. González Salaices3, C. López de Silanes de Miguel3 1La Moraleja Hospital, Clinical Neurophysiology, Madrid, Spain; 2University Hospital of Torrejón, Clinical Neurophysiology, Torrejón de Ardoz, Madrid, Spain; 3University Hospital of Torrejón, Neurology, Torrejón de Ardoz, Madrid,

P433: Clinical electromyography correlation in patients admitted to a university hospital

s of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339 S165 P433 Clinical electromyography correlation in patients admitted to a university hospital C. Kay, R. Scola, P. Lorenzoni, L. Werneck Universidade Federal do Paraná, Curitiba, Brazil Introduction: Electromyography (EMG) is indicated to neurophysiological assessment of the peripheral nervous system. The interpretation of the results depend on the clinical correlation, but its contribution to the diagnosis and management of inpatients is not often reported in the literature. The aim of this study was correlate the clinical hypothesis with the results found in EMG, of inpatients at the Hospital de Clinicas, Universidade Federal do Paraná, within one year, to evaluate the contribution of the examination in the diagnosis of patients. Methods: A retrospective review of all EMG examination and medical records of patients admitted to HC-UFPR during one year period. In the medical records was obtained demographic data, specialty who request the exam, indication for the EMG, topography, result of exam and number of exams done in the same patient in the same year. Clinical hypothesis were grouped in topography. The results of EMG were correlated with clinical hypothesis as: confirmatory correlation, new diagnosis, incidental diagnosis, inconclusive diagnosis and normal. Results: We performed 406 EMG in one year period (210 exams in 204 inpatients). There were 123 males and 81 females, with mean age 38 year (range 4 months–91 years old). Five patients were submitted to additional EMG, one of them twice. Discussion: Confirmatory correlation found was similar to described in literature. However this study had a greater number of normal EMG. It occurred because in myopathy suspicion, the EMG sampling could be normal. In patients with peripheral neuropathy and normal EMG, the main symptom was pain. Since pain is conducted by small fiber caliber, the routine nerve conduction studies were unable to detect abnormalities of these fibers. In patients with neuromuscular junction dysfunction, repetitive stimulation test was normal in 47% of cases. P434 Ultrasonography support during the electrical evaluation of the peripheral respiratory muscle dysfunction J.M. Corredera, M. Salinas, E. Montes, S. Garcia Urquiza, C. Quijada Hospital Fundación Jimenez Diaz, Neurofisiologia Clínica, Madrid, Spain Question: Weakness of respiratory muscles has been found to be a frecuent symptom in the medical history of patients in Intensive Care, wich precede to flaccid paraylisis in some severe cases. Phrenic nerve stimulation, electrical (ES) or from cervical magnetic stimulation (CME), is an uncommon technique, often consider difficult to perform. We try to improve technique’s reliabilty by adding ultrasonography assessment during the evaluation of the peripheral respiratory muscle dysfunction at our institution. Methods: We performed 10 hemidiaphragms studies on 5 in-patients with clinical respiratory muscle dysfunction. Each phrenic nerve was estimulated transcutaneously in the neck at the posterior border of the sternocleidomastoid muscles, trying to minimize co-stimulation of the brachial plexus, wich could cause activation of the upper limb musculature. Square-wave impulses of 0.1-ms duration were delivered, using a conventional bipolar electrode. Diaphragmatic muscle action potentials were recorded with surface electrodes placed over the seventh intercostal space (active), at the costochondral juntion, and the xiphoid process (reference). Simultaneously ultranosography (Mmode traces) of the ipsilateral hemidiaphragm was performed. Results: Of the 10 studies, we obtained 5 normal hemidiaphragm potentials followed by normal motion (represented as a spikelike deflection) at the ultrasonography. In 3 cases, responses were markedly reduced in amplitude with increased latencies and decreased motion. One diaphragmatic response showed mild amplitude reduction but normal motion. We obtained no electrical response, with no motion in one study. Conclusion: Electrical stimulation can be difficult to accomplish as a consecuence of morphology of the subjet, anatomical variations of the nerve, and lack of uniformity establishing an standard protocol of recording and stimulation. Furthermore stimulation of many of the muscles of the upper thoracic cage, as well as other external artifacts, could be responsable for contaminating the electrical signal. We find ultranosonography support during electrical stimulation a realiable combination of techniques, that can helps to avoid false positive and negative results. P436 Assessing motor units with improved MUNIX A. Khomenko, I. Kobor, F. Stein, D. Baldaranov, S. Johannesen, T. Bruun, U. Bogdahn, W. Schulte-Mattler Department of Neurology, University Hospital Regensburg, Regensburg,

16. Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies

Dra. Rosana Herminia Scola – Serviço de Doenças Neuromusculares / Hospital de Clínicas da UFPR – Rua General Carneiro 181 / 3o andar 80060-900 Curitiba PR – Brasil. E-mail: scola@hc.ufpr.br Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy characterized by recurrent episodes of paralysis of peripheral nerves, usually after a minor trauma to topographies prone to compression. Involvement of the cranial nerves has rarely been described in these patients. Reports of swallowing dysfunction in patients with HNPP are even rarer. We report a patient diagnosed with HNPP confirmed by molecular testing who presented with recurrent episodes of swallowing dysfunction (SD).

21. Myasthenia gravis and multiple sclerosis: An uncommon presentation

Dra. Rosana Herminia Scola – Serviço de Doenças Neuromusculares / Hospital de Clínicas da UFPR Rua General Carneiro 181 / 3o andar 80060-900 Curitiba PR Brasil. E-mail: scola@hc.ufpr.br Myasthenia gravis (MG) is an autoimmune disease that compromises neuromuscular transmission and is mediated by autoantibodies against acetylcholine receptors on the postsynaptic membrane. In its usual form it leads to symptoms of decreased muscle strength and fatigue. Multiple sclerosis (MS) is an immune-mediated demyelinating disease of the central nervous system that shows a wide range of clinical features and a variable natural history. There is some evidence that patients with MG or MS have a higher risk of developing autoantibodies and other neuroimmune disorders than normal controls. An autoimmune pathogenesis is implicated in both MG and MS, but the coexistence of the two disorders has rarely been documented, and for this reason we report this case.