Amyotrophic lateral sclerosis (ALS): three letters that change the people's life. For ever

Abstract

-Amyotrophic lateral sclerosis (Als) is a neurodegenerative disease affecting the motor nervous system. it causes progressive and cumulative physical disabilities in patients, and leads to eventual death due to respiratory muscle failure. The disease is diverse in its presentation, course, and progression. We do not yet fully understand the cause or causes of the disease, nor the mechanisms for its progression; thus, we lack effective means for treating this disease. currently, we rely on a multidisciplinary approach to symptomatically manage and care for patients who have Als. Although amyotrophic lateral sclerosis and its variants are readily recognized by neurologists, about 10% of patients are misdiagnosed, and delays in diagnosis are common. prompt diagnosis, sensitive communication of the diagnosis, the involvement of the patient and their family, and a positive care plan are prerequisites for good clinical management. A multidisciplinary, palliative approach can prolong survival and maintain quality of life. Treatment with riluzole improves survival but has a marginal effect on the rate of functional deterioration, whereas non-invasive ventilation prolongs survival and improves or maintains quality of life. in this review, we discuss the diagnosis, management, and how to cope with impaired function and end of life on the basis of our experience, the opinions of experts, existing guidelines, and clinical trials. Multiple problems require a multidisciplinary approach including aggressive symptomatic management, rehabilitation to maintain motor function, nutritional support (enteric feeding, gastrostomy), respiratory support (non invasive home ventilation, invasive ventilation, tracheotomy), augmentative communication devices, palliative care, psychological support for both patients and families (because family members so often play a central role in management and care), communication between the care team, the patient and his or her family, and recognition of the clinical and social effects of cognitive impairment. social, bioethical, and financial issues as well as advance directives should be addressed. A plethora of evidence-based guidelines should be compiled into an internationally agreed guideline of best practice. The multidisciplinary team has changed the history of disease, with still no curative therapy available.KeY WorDs: amyotrophic lateral sclerosis, diagnosis, treatment.Esclerose lateral amiotrófica (ELA): três letras que mudam a vida de uma pessoa. Para sempre.Resumo -A esclerose lateral amiotrófica (elA) é doença neurodegenerativa comprometendo o sistema nervoso motor. ela causa comprometimento físico, progressivo e acumulativo, com óbito freqüentemente decorrente de falência respiratória. A enfermidade apresenta características diversas nas formas de apresentação, curso e progressão. Não entendemos ainda a causa ou causas dessa enfermidade, nem os mecanismos que regem a sua progressão; assim, tratamentos efetivos não são, até o momento, conhecidos. Atualmente, recomenda-se que os...

C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

“…The overall prevalence of ALS ranges from 2-7 cases per 100,000 inhabitants 1 . A minor proportion of 5% of ALS cases represent familial autosomal dominant ALS cases 8 .…”

“…However, ALS is more than a pure motor neuron disease. It is a heterogeneous syndrome with clinical, pathological and genetic overlap with frontotemporal dementia 1 .…”

Enteral feeding through endoscopic gastrostomy in amyotrophic lateral sclerosis patients

“…PEG feeding also prevents food aspiration episodes, which can contribute to respiratory function decline and death, although microaspiration of oropharyngeal secretion remains possible in PEG-fed patients. Nevertheless, the timing of gastrostomy is not consensual, the optimal parameters of enteral feeding are not known and its potential disease-modifying effects remain uncertain (8,9).…”

Os benefícios da fisioterapia neurofuncional em pacientes com Esclerose Lateral Amiotrófica: revisão sistemática

“…A esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa caracterizada pela degeneração progressiva que acomete tanto os neurônios motores superiores (NMS), localizados no córtex motor e tronco encefálico, quanto os neurônios motores inferiores (NMI), localizados na medula espinhal [1][2][3][4] . É a degeneração comumente do corno anterior da medula, do núcleo motor dos nervos cranianos do tronco encefálico e das vias cortico-espinhais e cortico-bulbares 1,[5][6][7][8] .…”

“…Ao longo do tempo, leva à limitação ou incapacidade definitiva para a realização das atividades de vida diárias (AVDs), disfagia e insuficiência respiratória 1,4,21 , sendo esta última a principal causa de óbito 17 . Nesses pacientes, a fraqueza muscular associada à fadiga é a principal causa de limitação para a realização das AVDs e por isso torna-se sua maior queixa 19,21,22 ; outro fator bastante limitante é a espasticidade 13,23 .…”