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Amyotrophic Lateral Sclerosis Considerations on Diagnostic Criteria Article Arq Neuropsiquiatr 2010;68(6):837-842 Amyotrophic lateral sclerosis Considerations on diagnostic criteria Marco A. Chieia, Acary S.B. Oliveira, Helga C.A. Silva, Alberto Alain Gabbai ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder, compromising the motor neuron, characterized by progressive muscle weakness, with reserved prognosis. The diagnosis is based on inclusion and exclusion clinical criteria, since there is no specific confirmation test. The objective of this research is to critically examine the main diagnosis instrument - El Escorial revisited, from the World Federation of Neurology (1998). Of the 540 patients with initial ALS diagnosis, either probable or definite, seen at UNIFESP-EPM, 190 underwent thorough investigation, following regular clinical and therapeutic treatment for over two years. Thirty patients (15.78%) had their diagnosis completely changed. The false-positive diagnoses were related to: early age, clinical presentation of symmetry, weakness greater than atrophy, symptomatic exacerbation. In addition, three patients with myasthenia gravis developed framework for ALS, suggesting the post-synaptic disability as a sign of early disease. Key words: amyotrophic lateral sclerosis, correct diagnosis, El Escorial revisited. Esclerose lateral amiotrófica: considerações sobre critérios diagnósticos RESUMO Esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa, que compromete o neurônio motor, caracterizada por fraqueza muscular progressiva, com prognóstico reservado. O diagnóstico é baseado na inclusão e exclusão de critérios clínicos, uma vez que não existe um teste de confirmação específica. O objetivo desta pesquisa é analisar criticamente o instrumento de diagnóstico principal - El Escorial revisited, da Federação Mundial de Neurologia (1998). Dos 540 pacientes com diagnóstico inicial de ELA, seja provável ou definitiva, vistos pela UNIFESP-EPM, 190 foram submetidos a investigação aprofundada, após tratamento clínico e terapêutico regular há mais de dois anos. Trinta pacientes (15,78%) tiveram seu diagnóstico mudado completamente. Os diagnósticos falso-positivos foram relacionados à idade precoce, a apresentação clínica da simetria, a fraqueza superior a atrofia, exacerbação sintomática. Além disso, três pacientes com miastenia gravis desenvolveram quadro de ELA, sugerindo a lesão pós-sináptica como um sinal precoce da doença. Palavras-chave: esclerose lateral amiotrófica, diagnóstico correto, El Escorial revisited. Motor neuron diseases (MND) con- sent or diminished deep reflexes and fas- stitute a group of neurodegenerative dis- ciculations). MND’s evolution can com- orders characterized by loss of neurons promise both upper and lower limbs, as in the motor cortex, brainstem, and ven- well as areas innervated by bulbar nerve tral horn of the spinal cord. The clinical fibers. MND patient survival is low, and Correspondence presentation depends on the involvement is dependent on the initial involvement. Marco Antonio Troccoli Chieia Rua Mairinque 267 of upper motor neurons – UMN (weak- Death usually occurs in 3 to 5 years after 04037-020 - São Paulo SP - Brasil ness, spasticity and hyperreflexia) or low- the onset of symptoms, mainly as a result E-mail: [email protected] er motor neurons – LMN (weakness, ab- of respiratory failure1. Received 27 January 2010 Received in final form 11 May 2010 Neuromuscular Disorders Unit, Department of Neurology and Neurosurgery, Escola Paulista de Medicina, Federal University Accepted 18 May 2010 of São Paulo, São Paulo SP, Brazil. 837 Amyotrophic lateral sclerosis: diagnosis Chieia et al. Arq Neuropsiquiatr 2010;68(6) The disorders include: progressive muscle atrophy meeting in Airlie House, Warrenton, Virginia, U.S. This (PMA), represented by a pure involvement of LMN; pri- revised document, known as El Escorial Revisited, was mary lateral sclerosis, characterized by progressive in- published by the WFN-ALS on the Web, with an aim at volvement of pyramidal tract; progressive bulbar palsy refining the diagnosis6. (PBP), defined as the onset in the bulbar region; amyo- New methods of electrophysiology, neuroimaging, trophic lateral sclerosis (ALS), as described by Charcot in immunohistochemistry and genome analysis were add- 1874, showing deterioration of UMN and LMN. ed for accuracy of diagnosis. The document El Escorial The latter accounts for the most frequent clinical pre- Revisited has been regarded as an important step to alle- sentation (80% of total cases) and as a result many cen- viate the difficulties in producing the diagnosis. ters use the name ALS for the diseases with impairment In a recent meeting, held in Japan, researchers im- of motor neuron2. proved the diagnostic criteria and formulated “Awaji The causes of motor neuron injury in MND/ALS re- criteria”7. There was a reformulation of electromyogra- main incompletely understood. There are several mech- phy, adding fasciculation with signal of neuronal damage, anisms that may be involved in its development and a and inclusion new methods of diagnosis with transcrani- multifactorial disease is considered. The mechanisms re- al magnetic stimulation, voxel based morphometry and lated to ALS include the toxic effects caused by the mu- diffusium tensor imaging. tation of superoxide desmutase13, inclusion of abnormal Despite the diagnostic criteria established by the protein aggregation, intermediary filaments disorganiza- WFN, aided by more refined laboratory tests for diseas- tion, anterograde and retrograde axonal transport change, es that mimic ALS, accompanied by recent advances in microglial activation, excitotoxicity mediated by gluta- imaging techniques, incorrect diagnosis is not infrequent. mate, abnormalities in regulation of intracellular calci- In previous studies, 45% of ALS patients presented ini- um and others. tial wrong diagnosis and 25% of these were performed The diagnosis is based on clinical aspects. Therefore, by neurologists. we do not have a real biomarker for MND diagnosis. In addition, there is a long waiting period between the outset of symptoms and the diagnosis. In an internation- Diagnosis al multicenter study named ISIS Survey, with 201 ELA- For many years, the only published criteria for the diagnosed patients, median time required to confirm di- recognition of MND / ALS were done by Lambert, es- agnosis was 14 months, with a 2-month waiting period tablished through electroneuromyography (ENMG)4. In for the first appointment. It took 8 months for the first 1990, guidelines set by different researchers have been in- appointment with the neurologist and it took another 4 corporated within the diagnostic criteria formulated by a months for neurologist’s diagnosis observation and re- Subcommittee on ALS of the World Federation of Neu- evaluation8. rology (WFN), which culminated in the meeting and edit- Systematic reviews of ALS patients, in the last de- ing of the diagnostic criteria in El Escorial, Spain, in 19945. cade, have shown 9 to 10% of false-positive ALS diag- ALS diagnosis is defined within the evidence of signs nosis. These, primarily included in the group of ALS at of impairment of lower motor neuron, by means of clin- El Escorial Revisited, have unusual developments, with a ical examination, electrophysiological or neuropatholo- break of the progression of chronic and progressive motor gycal changes, associated with clinically proven impair- involvement and the appearance of signs and symptoms ment of upper motor neuron, with chronic and progres- uncommon in clinical course, leading to a careful review sive development. It is still necessary, for diagnosis, the diagnostic, pointing to other diseases such as multifocal absence of electrophysiological and pathological findings motor neuropathy (MMN) and Kennedy disease9,10. characteristic of other diseases that explain the degenera- The objective of this study is a critical analysis of the tion of motor neurons, as well as changes in neuroimag- ALS diagnostic criteria based on clinical presentations of ing to justify the electrophysiological signals. patients with atypical presentation of motor neuron disease. There has been, however, consensus among research- ers, since certain clinical pictures and, above all, certain METHOD electrophysiological findings left doubt about the com- The Motor Neuron Disease Unit at the Neuromuscu- pletion of diagnosis in some specific situations. Gener- lar Diseases Clinic in UNIFESP-EPM, running regularly al neurologists and specialists in neuromuscular diseas- since 1999, has sought to follow the development of di- es claimed additional difficulties for the necessary ALS agnostic criteria for MND / ALS. The current diagnostic early diagnosis. criteria are those defined by the El Escorial Revisited, in The diagnostic criteria in El Escorial were reformu- which patients are subjected to a memorandum of clini- lated in 1998, at the World Federation of Neurology ALS cal research in the WFN, previously cited. 838 Amyotrophic lateral sclerosis: diagnosis Arq Neuropsiquiatr 2010;68(6) Chieia et al. The outpatient monitoring is carried out under reg- tients met the MND / ALS diagnostic criteria, comple- ular (at least quarterly) periodic consultations encom- mented with laboratory research in compliance with passing multidisciplinary orientation therapy. To the best both research protocols and regular monitoring. Thirty characterization of the goals, these patients’ medical re- of these patients (15.78%) had their diagnosis complete- cords
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