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Case 2. Gastrocnemius muscle biopsy. Longitudinal section. Electron micrograph. Dilatation of terminal cisternae. x 7000
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Four patients with muscular pain, fasciculations, contractures or cramps are presented. Evidence of peripheral nerve involvement was revealed by electromyography and nerve conduction studies. Muscle biopsy showed mild signs of denervation and reinnervation and, at electron microscopy, dilatations of terminal cisternae were found. All patients showe...
Citations
... La faiblesse musculaire est rare, peut se rencontrer en cas de myasthénie associée ou dans le cadre d'une fatigabilité musculaire post-contraction [188]. ...
... signes neurologiques de focalisationIls étaient généralement rares, plutôt plus fréquents dans l'encéphalite à anti CASPR2 (50%), selon notre étude, que dans les encéphalites à anti LGI1 (25%) et à anti NMDAr (16,7%). Des signes d'atteinte périphérique (neuropathie, syndrome myasthénique), et/ou d'atteinte centrale, à type d'ataxie cérébelleuse (30%) ont été constatés dans l'encéphalite à anti CASPR2, habituellement décrits dans la littérature et suggestifs de diagnostic surtout en cas d'association aux signes d'encéphalite limbique[105,188]. Pour l'encéphalite à anti LGI1, on a retrouvé rarement des signes non spécifiques telle que l'hémiparésie (12,5% des cas). ...
Introduction: Les encéphalites autoimmunes sont des entités récentes et méconnues, ciblant les antigènes du SNC, réalisant souvent une encéphalite limbique inflammatoire, dont l’immunothérapie est souvent efficace.Objectifs de l’étude: Déterminer les caractéristiques cliniques et para cliniques des encéphalites à anti NMDAr, à anti CASPR2 et à anti LGI1.Matériels et méthodes: C’est une étude descriptive, prospective et rétrospective, de janvier 2016 à décembre 2018.Résultats: Nous avons recensé 30 patients (âge moyen de 44 ± 18,05 ans). Le tableau clinique était souvent aigu (73,3%), avec des troubles psychiatriques, des troubles de la vigilance, de crises d’épilepsie, et des troubles mnésiques, voir de la dysautonomie. Un hyper signal temporal (± extra limbique) a été souvent retrouvé à l’IRM, des anomalies aspécifiques à l’EEG, et un LCR inflammatoire. Les FBDS, les dyskinésies, et la neuromyotonie était les signes discriminatifs. Une néoplasie a été retrouvée chez 16,7% des cas. L’immunothérapie a conduit à une bonne évolution.Conclusion: Cette étude a pour objectif de savoir diagnostiquer ces entités dans notre pays et d’instaurer un traitement précoce et efficace. Une étude avec de grands échantillons serait plus bénéfique.
... Patient complaining of muscular pain, fasciculation's, myokymia, contractures, cramps & other milder symptoms are often encountered in neurophysiology laboratory [1]. Two main syndromes are recognized in clinical practice, one is the syndrome of continuous muscle fibre activity characterized by generalized fasciculation's & hyperhidrosis first reported by Isaacs' [2]. ...
... Two main syndromes are recognized in clinical practice, one is the syndrome of continuous muscle fibre activity characterized by generalized fasciculation's & hyperhidrosis first reported by Isaacs' [2]. The other is stiff-man syndrome describe by Moersh & Woltman, consist of progressive muscle stiffness in proximal limb muscles with superimposed painful spasms [1,3]. ...
Continuous muscle fibre activity or Isaacs' syndrome is a rare condition which represents more severe phenotype of peripheral nerve hyper excitability. It is characterized by muscle twitching, stiffness& hyperhidrosis.
... Previous findings are not consistent with the presence of neurophysiologically detectable neuromuscular transmission defects in patients with NMT. 3,6,7 This discrepancy may be attributable to heterogeneity in the severity and extent of the pathological processes underlying NMT. 1 Coincident autoimmune MG might have further complicated the issue of the origin and pathophysiology of exertional weakness in NMT. Although the mechanism involved remains to be elucidated, the findings of the present case report suggest that 1) exertional weakness can develop in NMT without coexisting autoimmune MG, and 2) the constantly rapidly firing motor units in NMT may compromise the safety factor at the neuromuscular junction sufficiently to cause a neuromuscular transmission defect. ...
Acquired neuromyotonia (NMT) forms part of the spectrum of acquired peripheral nerve hyperexcitability syndrome, and is thought to be caused by antibodies to voltage-gated potassium channels (VGKC). Exertional weakness is unusual unless autoimmune myasthenia gravis (MG) is superimposed.
A case of acquired NMT accompanied by exertional weakness without coexistence of seropositive MG is reported herein.
Clinical and electrophysiological observations suggest that the cholinergic overactivity in NMT can compromise the safety factor sufficiently to cause a defect in neuromuscular junction transmission.
... It has been argued that one can differentiate SPS from neuromyotonia by clinical features (Table 2), although overlap in clinical symptomatology between these two disorders has been noted. 15,23,45 Classically, neuromyotonia symptoms usually respond to antiepileptics such as phenytoin or carbamazepine, 20,28 while SPS usually responds to GABAergic medications such as diazepam, 19 baclofen, 29,49 and valproate, 44 or alpha-2 adrenergic receptor agonists such as clonidine. 26,27 Also in SPS, muscular hyperactivity has been shown to subside during stage 3 and REM sleep. ...
We report the first case of stiff-persons' (-man) syndrome in the setting of a histologically proven thymoma. Muscular hyperactivity was abolished under general anesthesia and the symptoms of stiffness resolved after thymectomy and three courses of intravenous immunoglobulins. After thymectomy, the patient developed ocular myasthenia gravis which later resolved spontaneously. We suggest that thymoma be sought for in cases with neuromuscular hyperactivity syndromes. Myasthenia gravis may develop subsequently in these cases. © 1997 John Wiley & Sons, Inc. Muscle Nerve, 20, 493–498, 1997
We here report the case of a 75 year old woman who came to our attention because of neuromyotonia with associated polyneuropathy responsive to the administration of carbamazepine and methylprednisolone. The finding of oligoclonal bands in the gamma zone of the spinal fluid, the alterations in some tumor markers and the endoscopic finding of a neoplasm in Vater's papilla seem to confirm an autoimmune/paraneoplastic genesis. Finally, the extremely high creatine kinase levels (more than 25 times normal values) raises the question as to whether the muscular necrosis was secondary to the prolonged muscular contractions or the expression of paraneoplastic myositis.
Stiff-man syndrome is a central nervous system disorder, characterized by muscle rigidity and painful spasms, which involve mainly the muscles of the limbs, trunk, and neck. This chapter discusses the etiology, pathogenesis, clinical manifestations, diagnosis, treatment, and prognosis of this disorder. © 2014 Springer Science+Business Media New York. All rights are reserved.
Autoimmune channelopathies are rare neuromuscular diseases that have been characterized clinically for several decades but for which the evidence of associated antibodies has only been recently demonstrated. Ion channels have an important role of activation, inhibition and regulation in neuromuscular transmission. Myasthenia gravis, generally associated with the presence of anti-acetylcholine receptor antibody, is the best-known channelopathy. Other anti-channel antibodies, including voltage-dependent, are associated with several neurological diseases, as illustrated by anti-voltage-gated calcium channels found in Lambert-Eaton myasthenic syndrome and paraneoplastic cerebellar ataxia, and anti-voltage-gated potassium channels found in neuromyotonia, Morvan's syndrome and limbic encephalitis. The treatment of autoimmune channelopathies is logically based on corticosteroids, immunosuppressant drugs, intravenous immunoglobulins and plasmapheresis.
Copyright © 2011 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.
A patient with neuromyotonia, peripheral neuropathy and myasthenia gravis (MG) is described. Neurophysiological studies, at rest, showed continuous muscle discharges of motor unit action potentials (MUAPs) in duplets and triplets. Motor (MNCV) and sensory (SNCV) nerve conduction studies revealed mild axonal and demyelinating peripheral neuropathy. Plasma exchange was followed by disappearance of clinical and electrophysiological signs of neuromyotonia and MG, as well as peripheral neuropathy. © 1996 John Wiley & Sons, Inc.
Histological and ultrastructural studies were performed on nerve and muscle biopsy specimens from two patients with the syndrome of continuous muscle fibre activity. The characteristics of muscle biopsies were as follows. By light microscopy, internal nuclei were present in many of the fibres. By electron microscopy many fibres contained filamentous bodies and subsarcolemmal aggregates of mitochondria embedded in the peripheral zone of cytoplasm, and occasional mitochondria with disorganized or branched cristae were larger than normal. Biopsies of sural nerves revealed a decreased number of myelinated fibres, clusters of small myelinated fibres, and evidence of active axonal degeneration such as disintegrated myelin segments and degenerated axon components, as well as loss of axonal contents. With the present biopsy findings, it is suggested that the pathological process of this syndrome affects peripheral nerves as well as muscles.
