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Limb Weakness (limb + weakness)
Selected AbstractsCo-morbidity of Emery,Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindredEUROPEAN JOURNAL OF NEUROLOGY, Issue 3 2007G. Ifergane Emery,Dreifuss muscular dystrophy (EDMD) is an X-linked humero-peroneal muscular dystrophy associated with contractures and cardiomyopathy. In a 90 member family, we found 11 affected male individuals, three of whom displayed areflexia and neurogenic electromyographic changes. Muscle biopsy performed in one case demonstrated type grouping suggestive of a neurogenic disorder. These three individuals and another family member, who suffers from mild, static limb weakness but is clinically and genetically unaffected by EDMD showed an abnormal incremental response of over 100% to tetanic stimulation. In contrast, one affected family member showed myopathic features on needle electromyography and no definite pathology in repetitive stimulation studies. The diagnosis of EDMD was established by demonstrating a 1712_1713insTGGGC mutation in the emerin gene. This family apparently expresses co-morbidity of EDMD with an exceptionally mild form of pre-synaptic congenital myasthenic syndrome resembling the Lambert,Eaton myasthenic syndrome (LEMS). The superimposed pre-synaptic disorder may have contributed to the development of the neurogenic features demonstrated in these patients. [source] Myasthenia gravis and proximal limb weaknessEUROPEAN JOURNAL OF NEUROLOGY, Issue 11 2006K. Papadopoulos No abstract is available for this article. [source] Nutritional factors associated with survival following enteral tube feeding in patients with motor neurone diseaseJOURNAL OF HUMAN NUTRITION & DIETETICS, Issue 4 2010A. Rio Abstract Background: Motor neurone disease (MND) is a progressive neurodegenerative disease leading to limb weakness, wasting and respiratory failure. Prolonged poor nutritional intake causes fatigue, weight loss and malnutrition. Consequently, disease progression requires decisions to be made regarding enteral tube feeding. The present study aimed to investigate the survival, nutritional status and complications in patients with MND treated with enteral tube feeding. Methods: A retrospective case note review was performed to identify patients diagnosed with MND who were treated with enteral tube feeding. A total of 159 consecutive cases were identified suitable for analysis. Patients were treated with percutaneous endoscopic gastrostomy (PEG), radiologically inserted gastrostomy (RIG) or nasogastric feeding tube (NGT). Nutritional status was assessed by body mass index (BMI) and % weight loss (% WL). Serious complications arising from tube insertion and prescribed daily energy intake were both recorded. Results: Median survival from disease onset was 842 days [interquartile range (IQR) 573,1263]. Median time from disease onset to feeding tube was PEG 521 days (IQR 443,1032), RIG 633 days (IQR 496,1039) and NGT 427 days (IQR 77,781) (P = 0.28). Median survival from tube placement was PEG 200 (IQR 106,546) days, RIG 216 (IQR 83,383) days and NGT 28 (IQR 14,107) days. Survival between gastrostomy and NGT treated patients was significant (P , 0.001). Analysis of serious complications by nutritional status was BMI (P = 0.347) and % WL (P = 0.489). Conclusions: Nutritional factors associated with reduced survival were weight loss, malnutrition and severe dysphagia. Serious complications were not related to nutritional status but to method of tube insertion. There was no difference in survival between PEG and RIG treated patients. [source] Leptomeningeal carcinomatosis from squamous cell carcinoma of the supraglottic larynxJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 3 2003Stephen R Thompson Summary Leptomeningeal carcinomatosis is an uncommon but devastating form of metastatic spread. To our knowledge, only 16 cases originating from a head and neck cancer have been reported. We describe the first case of a patient with leptomeningeal carcinomatosis arising from a laryngeal squamous cell carcinoma. Shortly after completing treatment for an advanced supraglottic laryngeal cancer, this 63-year-old man presented with lower limb neurological symptoms and signs. Radiological and cytological evidence of leptomeningeal carcinomatosis of the distal spinal canal was identified. He was treated with intrathecal methotrexate and palliative radiotherapy. Although his pain improved, his lower limb weakness worsened. He died 3 weeks after completing radiotherapy. Presumed mode of spread was via the haematogenous route. The natural history and management of leptomeningeal carcinomatosis are discussed. Clinicians should be aware of the uncommon possibility of leptomeningeal carcinomatosis in a patient presenting with an appropriate constellation of symptoms and signs, and a past history of cancer. [source] Upper limb muscle imbalance in tennis elbow: A functional and electromyographic assessmentJOURNAL OF ORTHOPAEDIC RESEARCH, Issue 12 2007Omid Alizadehkhaiyat Abstract The purpose of this study was to investigate strength, fatigability, and activity of upper limb musculature to elucidate the role of muscular imbalance in the pathophysiology of tennis elbow. Sixteen patients clinically diagnosed with tennis elbow, recruited from a university hospital upper limb orthopedic clinic, were compared with 16 control subjects with no history of upper limb musculoskeletal problem, recruited from university students and staff. Muscle strength was measured for grip, metacarpophalangeal, wrist, and shoulder on both sides. Electromyographic activity (RMS amplitude) and fatigue characteristics (median frequency slope) of five forearm and two shoulder muscles were measured during isometric contraction at 50% maximum voluntary contraction. All strength measurements showed dominance difference in C, but none in TE. In tennis elbow compared to controls, hand/wrist and shoulder strength and extensor carpi radialis (ECR) activity were reduced (p,<,0.05), while fatigue was normal. A global upper limb weakness exists in tennis elbow. This may be due to disuse and deconditioning syndrome caused by fear avoidance, and needs to be addressed in prevention and treatment. Activation imbalance among forearm muscles (reduced extensor carpi radialis activity) in tennis elbow, probably due to protective pain-related inhibition, could lead to a widespread upper limb muscle imbalance. © 2007 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 25:1651,1657, 2007 [source] Clinical presentation and prognosis of childhood Guillain,Barré syndromeJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 7-8 2008Jung Hwan Lee Aim: Guillain,Barré syndrome (GBS) is an acute inflammatory polyneuropathy commonly characterised by rapidly progressive, symmetric weakness and areflexia. This study is to assess the clinical characteristics of paediatric GBS, as well as its long-term functional prognosis. Methods: We retrospectively assessed the clinical manifestations, results of electrodiagnostic tests, functional status and prognosis of 56 children diagnosed with GBS. Based on clinical and electrophysiological findings, the patients were classified as having acute inflammatory demyelinating polyradiculoneuropathy ([AIDP]n = 34), acute motor axonal neuropathy ([AMAN]n = 14), acute motor and sensory axonal neuropathy (n = 1) and Miller Fisher syndrome ([MFS]n = 7). Results: Upper respiratory infection was the most frequent preceding event, and limb weakness was the most frequent symptom at GBS onset. There was no significant difference in the mean time from the onset of illness to nadir between any of these groups. Both the AIDP and AMAN groups showed significantly poorer functional status, measured by the Hughes scale, than the MFS group. Two years after nadir, however, the three groups did not differ significantly. Functional status at nadir, as estimated by the Hughes scale, is a more important factor than electrophysiological types in predicting long-term outcome. Conclusion: The most common symptom at onset in paediatric GBS was limb weakness. Functional status at nadir in AMAN was not significantly different from that of AIDP, and both types achieved good functional outcome for ambulation after 2 years. Functional status at nadir was more important than the electrophysiological type in predicting long-term outcomes. [source] Neuropathy Associated With Anti-Chondroitin Sulfate C IgM AntibodiesJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2001B Bossi Chondroitin Sulfate C (ChS-C), is a glycosaminoglycan present in the membranes of neurons and axons. Anti-ChS-C IgM antibodies have been reported in patients with predominantly sensory neuropathy (PN) often associated with IgM monoclonal gammopathy, but also in some neurological controls. In order to evaluate the frequency and clinical correlate of anti-ChS-C IgM antibodies, we tested them by a new Covalink ELISA technique in sera from 206 patients with IgM monoclonal gammopathy including 79 with PN (PN+IgM) with unknown IgM reactivity, 65 with PN with antibodies to the myelin-associated glycoprotein and 62 without PN, and from 33 patients with PN of other causes, 30 with other neurological and non-neurological diseases and 23 normal subjects. We only found high titers of anti-ChS-C IgM in two patients (1/128,000 and 1/256,000 respectively) with IgM monoclonal gammopathy: one had Waldenström Macroglobulinemia diagnosed seven years before and a 3 year history of slowly progressive limb weakness, finger paresthesias, unsteady gait and occasional nocturnal cramps. Neurological examination revealed a predominantly large-fiber sensory neuropathy with mild distal atrophy and weakness in upper and lower limbs. Electrophysiological and morphological studies were suggestive of a predominantly demyelinating neuropathy. The other patient had IgM MGUS without PN at the time of antibody testing but developed finger paresthesias seven years later, when he had decreased position sense and abnormal sensory nerve conduction studies. In conclusion high titers of anti-ChS-C IgM, though infrequent, were always associated with the presence or development of sensory PN in patients with IgM M-protein, supporting a possible role for these antibodies in the neuropathy. [source] Role Of Campylobacter Jejuni In Experimental Allergic Neuritis: A Morphological And Biochemical StudyJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2001M Laura Objective: The aim of the study was to evaluate if Campylobacter jejuni (C.j.) when used as an adjuvant would be able to produce a different form of Experimental Allergic Neuritis (EAN). We present here some preliminary results. Background: EAN is considered the in vivo model of Guillain-Barrè Syndrome (GBS), which is often preceded by c.j. infection. EAN can be induced in Lewis rats by immunization with bovine peripheral nerve myelin in complete Freund's adjuvant (CFA), an emulsion formed by oil-in-water and dead mycobacteria. An adjuvant is usually necessary for the induction of EAN because it enhances the immunogenicity of the antigen. Clinically EAN is characterized by an acute monophasic course and progressive tail and limb weakness. The pathological finding is represented by marked demyelination affecting the roots and the sciatic nerve. Methods: 4 Lewis rats were immunized with an emulsion containing 2 mg of bovine peripheral myelin and C.j. strain Penner 0:41 in incomplete Freund's adjuvant (IFA). They were compared to 4 controls immunized with the same amount of peripheral myelin in CFA. The clinical course of the disease and the histological pattern of the roots and the sciatic nerve were examined. Anti-peripheral myelin, anti-C.jejuni and anti-GM1 antibodies' reactivity was detected by an ELISA assay. A biochemical study was performed to test the role of cell- and humoral-mediated responses. Results: The Lewis rats immunized with the C.j. as an adjuvant showed a delayed onset and a milder course of disease. Pathology in the roots was characterized by predominant demyelination, whereas the sciatic nerve presented very little signs of damage. Conclusion: This serotype of C.j. appears to be a less effective adjuvant in inducing EAN rather than Mycobacteria. Further studies are necessary to elucidate the pathogenetic mechanisms involved in GBS. [source] A FAMILY WITH AUTOSOMAL DOMINANT MUTILATING NEUROPATHY NOT LINKED TO EITHER 3q13-q22 OR 9q22 LOCIJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2000E. Bellone The clinical separation of CMT2 from HSAN I may be difficult in some kindreds in which the sensory and motor symptoms and deficits are approximately alike. The genetic studies of CMT2 families are also controversial: one form of CMT2 was shown to map on chromosome 3q13-q22 and named CMT2B; the HSAN I locus was mapped to 9q22.1. We describe a family with an autosomal dominant inheritance in which at least three members, belonging to three generations, developed a progressive neuropathy that combined limb weakness, wasting, and severe distal sensory loss leading to prominent mutilating changes. The onset was in late childhood, with progressive weakness in the lower limbs and later in the hands, resulting in a severe paralysis in the feet in one patient. Sensory disturbances were pronounced in 2 patients, and led to poorly healing ulcerations with osteomyelitis and amputations in one foot and mutilating lesions of both hands. Electrophysiological investigation revealed an axonopaty with consistent motor damage. Sural nerve biopsy showed a reduction in the density of both myelinated and unmyelinated fibers, with regenerating clusters. Linkage analysis using 5 microsatellite markers within to the critical 9q22 region was performed. Lod scores of this family calculated by LINKAGE package excluded association to this locus. We also performed linkage studies with chr. 3q13-q22 markers associated to the CMT2b locus. Lod scores excluded this locus as well as responsiblity of the familial phenotype. The severity of motor involvement would suggest classifying the disorder of this family as a form of HSMN II rather than HSAN, indicating that a new locus is involved in the pathogenesis of this disorder. [source] CLINICAL AND IMMUNOLOGICAL FEATURES AND RESPONSE TO IVIg IN PATIENTS WITH CLINICALLY TYPICAL MULTIFOCAL MOTOR NEUROPATHY BUT NO OVERT CONDUCTION BLOCKJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2000E. Nobile-Orazio Multifocal motor neuropathy (MMN) is characterized by progressive asymmetric limb weakness usually predominant in the upper limbs associated with conduction block (CB) in motor but not sensory nerves. There are, however, occasional patients with clinically typical MMN in whom no CB can be detected. Whether these patients differ from patients with MMN and CB remains unclear. Since 1991, we have observed 24 patients with the typical clinical features of MMN. In 20 of them (14 men and 6 women), electrophysiological studies disclosed the presence of CB in at least one motor nerve. In four (all women), no evidence of CB could be detected in examined nerves even if three had some features of demyelination, including asymmetric reduction of motor conduction velocities (1 patient) or prolonged or absent F wave latencies (3 patients). Three of them had markedly reduced or absent proximal and distal CMAP amplitudes in some nerves. The mean age of onset of MMN was similar in patients with (41.5 years, range 21,70) and without CB (41.5 years, range 24,57). The mean duration of the disease at the time of our first visit was longer in patients without CB (18.5 years, range 13,25) than in those with CB (6.3 years, 3 months,25 years); only 3 patients with CB had a duration of the disease longer than 10 years. All patients without CB had a predominant or exclusive impairment of upper limbs compared with 18 (90%) of those with CB. The mean Rankin score before therapy was slightly worse in patients without (2.5) than with (2.2) CB. Anti-ganglioside antibodies were found in 1 patient without CB (25%) and in 8 (40%) with CB. All but 2 patients with CB (90%) consistently improved with IVIg. All patients without CB also improved with IVIg, but only one did so consistently. In conclusion, patients with the typical clinical presentation of MMN but no overt CB are clinically and immunologically indistinguishable from those with MMN and CB. The longer duration of the disease and frequent axonal impairment in patients without CB may explain the lower efficacy of IVIg in these patients than in those with CB. [source] Successful use of short-term mechanical ventilation to manage respiratory failure secondary to profound hypokalemia in a cat with hyperaldosteronismJOURNAL OF VETERINARY EMERGENCY AND CRITICAL CARE, Issue 5 2008Tara N. Hammond DVM Abstract Objective , To report successful management of respiratory failure due to severe hypokalemia in a cat with hyperaldosteronism, including short-term mechanical ventilation strategies and aspects of medical and surgical treatment. Case Summary , A cat presented with bilateral pelvic limb weakness that rapidly progressed to tetraparesis and respiratory muscle failure. Point-of-care testing revealed severe hypokalemia (1.9 mmol/L) and mild azotemia. Initial management included endotracheal intubation, mechanical ventilation, and aggressive potassium supplementation. Spironolactone was started due to a high index of suspicion for hyperaldosteronism. A right adrenal mass visualized during abdominal ultrasonographic examination and a serum aldosterone level greater than 3329 pmol/L confirmed the diagnosis. The cat made a full recovery following surgical removal of a right adrenal adenoma. New or Unique Information Provided , We report successful management of respiratory failure in a cat with hyperaldosteronism using short-term mechanical ventilation. Respiratory failure due to severe hypokalemia should be considered a complication of hyperaldosteronism in cats and may require mechanical ventilation. However, full recovery is possible. [source] Neuromuscular manifestations of critical illness,MUSCLE AND NERVE, Issue 2 2005Charles F. Bolton MD Abstract Critical illness, more precisely defined as the systemic inflammatory response syndrome (SIRS), occurs in 20%,50% of patients who have been on mechanical ventilation for more than 1 week in an intensive care unit. Critical illness polyneuropathy (CIP) and myopathy (CIM), singly or in combination, occur commonly in these patients and present as limb weakness and difficulty in weaning from the ventilator. Critical illness myopathy can be subdivided into thick-filament (myosin) loss, cachectic myopathy, acute rhabdomyolysis, and acute necrotizing myopathy of intensive care. SIRS is the predominant underlying factor in CIP and is likely a factor in CIM even though the effects of neuromuscular blocking agents and steroids predominate in CIM. Identification and characterization of the polyneuropathy and myopathy depend upon neurological examination, electrophysiological studies, measurement of serum creatine kinase, and, if features suggest a myopathy, muscle biopsy. The information is valuable in deciding treatment and prognosis. Muscle Nerve, 2005 [source] Quadriparesis as initial presentation of hyperosmolar non-ketotic diabetesPRACTICAL DIABETES INTERNATIONAL (INCORPORATING CARDIABETES), Issue 9 2002Abstract Acute onset quadriparesis can be a manifestation of a variety of neurological and metabolic conditions. We report the case of a 47-year-old alcoholic gentleman who presented with acute onset weakness of all four limbs associated with hypokalemia and very high blood glucose (hyperosmolar nonketotic diabetes,HNKD) detected for the first time. He was confirmed as having type 2 diabetes (detectable insulin and C-peptide levels) and his quadriparesis completely resolved on potassium replacement and treatment with insulin. HNKD is discussed along with the possible mechanisms of hypokalemia in this patient presenting with reversible limb weakness as an initial manifestation of type 2 diabetes. Copyright © 2002 John Wiley & Sons, Ltd. [source] A de Novo PABPN1 Germline Mutation in a Patient with Oculopharyngeal Muscular Dystrophy,THE LARYNGOSCOPE, Issue 1 2006Nicolas Gürtler Abstract Background: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominantly inherited disorder characterized by dysphagia, ptosis, and proximal limb weakness and is caused by germline mutations (triplet repeat expansions) in the polyadenylate binding protein nuclear 1 (PABPN1) gene. Objective: To describe a 70-year-old female patient with OPMD on the clinical and molecular genetic level and to develop a rapid and efficient molecular genetic screening method to study large patient groups. Methods: Detailed family history and clinical assessment of the OPMD patient were followed by mutation analysis of the PABPN1 gene by direct DNA sequencing and by our newly developed method, fluorescent PABPN1 polymerase chain reaction (PCR) product (flPPP) method. A cohort of 50 healthy Swiss probands was screened using the flPPP to assess the frequency of the (GCG)7 allele in the Swiss population. Cricopharyngeal myotomy was performed as treatment for dysphagia. Results: A heterozygous (GCG)9 triplet repeat expansion in PABPN1 was identified. Since the family history proved to be negative, the mutation is likely to have occurred de novo. The frequency of the (GCG)7 allele among healthy Swiss controls amounted to 1%. The flPPP method showed a sensitivity and specificity of 100%. Two years after cricopharyngeal myotomy, the patient is still relieved of dysphagia. Conclusions: An otolaryngologist should include OPMD in the differential diagnosis of a patient presenting with dysphagia, as this symptom can be the first sign of the disease and family history can be negative. Molecular genetic testing represents a highly accurate and rapid way to confirm the clinical diagnosis of OPMD. Cricopharyngeal myotomy relieves the patient of dysphagia in the majority of cases. [source] A novel endogenous erythropoietin mediated pathway prevents axonal degenerationANNALS OF NEUROLOGY, Issue 6 2004Sanjay C. Keswani MRCP Clinically relevant peripheral neuropathies (such as diabetic and human immunodeficiency virus sensory neuropathies) are characterized by distal axonal degeneration, rather than neuronal death. Here, we describe a novel, endogenous pathway that prevents axonal degeneration. We show that in response to axonal injury, periaxonal Schwann cells release erythropoietin (EPO), which via EPO receptor binding on neurons, prevents axonal degeneration. We demonstrate that the relevant axonal injury signal that stimulates EPO production from surrounding glial cells is nitric oxide. In addition, we show that this endogenous pathway can be therapeutically exploited by administering exogenous EPO. In an animal model of distal axonopathy, systemic EPO administration prevents axonal degeneration, and this is associated with a reduction in limb weakness and neuropathic pain behavior. Our in vivo and in vitro data suggest that EPO prevents axonal degeneration and therefore may be therapeutically useful in a wide variety of human neurological diseases characterized by axonopathy. Ann Neurol 2004 [source] Motor aprosodia due to isolated brainstem stroke in a young womanACTA NEUROLOGICA SCANDINAVICA, Issue 3 2005M. Hoffmann A 21 year old woman presented with coma and quadriparesis secondary to bilateral pontine infarction. Three weeks later motor aprosodia was the most notable neurological finding apart from mild asymmetric limb weakness. No other supratentorial lesion was noted on initial and subsequent multimodality magnetic resonance imaging and magnetic resonance perfusion imaging revealed right frontotemporal hypoperfusion. This is the first report of aprosodia with an isolated brainstem lesion. [source] | ||||||||||