Breathing new life into treatment advances for respiratory failure in amyotrophic lateral sclerosis patients

2014 ◽  
Vol 4 (1) ◽  
pp. 83-102 ◽  
Author(s):  
Susana Pinto ◽  
Mamede de Carvalho
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Failure ◽  
Lateral Sclerosis

scholarly journals The multidimensional nature of dyspnoea in amyotrophic lateral sclerosis patients with chronic respiratory failure: Air hunger, anxiety and fear

2018 ◽  
Vol 145 ◽  
pp. 1-7 ◽  
Author(s):  
Capucine Morélot-Panzini ◽  
Thierry Perez ◽  
Kamila Sedkaoui ◽  
Elodie de Bock ◽  
Bernard Aguilaniu ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Failure ◽  
Chronic Respiratory Failure ◽  
Lateral Sclerosis ◽  
Anxiety And Fear

scholarly journals A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS

2020 ◽  
Vol 10 (3) ◽  
pp. 58 ◽  
Author(s):  
Owen Connolly ◽  
Laura Le Gall ◽  
Gavin McCluskey ◽  
Colette G Donaghy ◽  
William J Duddy ◽  
...  
Keyword(s):  
Systematic Review ◽  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Failure ◽  
Motor Neuron ◽  
Motor Neurons ◽  
Disease Duration ◽  
Phenotype Correlation ◽  
Motor Neuron Diseases ◽  
Relationship Of ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis is a rare and fatal neurodegenerative disease characterised by progressive deterioration of upper and lower motor neurons that eventually culminates in severe muscle atrophy, respiratory failure and death. There is a concerning lack of understanding regarding the mechanisms that lead to the onset of ALS and as a result there are no reliable biomarkers that aid in the early detection of the disease nor is there an effective treatment. This review first considers the clinical phenotypes associated with ALS, and discusses the broad categorisation of ALS and ALS-mimic diseases into upper and lower motor neuron diseases, before focusing on the genetic aetiology of ALS and considering the potential relationship of mutations of different genes to variations in phenotype. For this purpose, a systematic review is conducted collating data from 107 original published clinical studies on monogenic forms of the disease, surveying the age and site of onset, disease duration and motor neuron involvement. The collected data highlight the complexity of the disease’s genotype–phenotype relationship, and thus the need for a nuanced approach to the development of clinical assays and therapeutics.

scholarly journals Use of non-invasive ventilation to facilitate extubation in a patient with amyotrophic lateral sclerosis with hypercapnic respiratory failure

2019 ◽  
Vol 11 (2) ◽  
Author(s):  
Montserrat Diaz-Abad ◽  
Chandana Chauhan ◽  
Denise Epps ◽  
James W. Russell ◽  
Justin Kwan
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Failure ◽  
Functional Status ◽  
First Year ◽  
Invasive Ventilation ◽  
Post Discharge ◽  
Hypercapnic Respiratory Failure ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
Lateral Sclerosis

We present the case of a 44-year-old man with amyotrophic lateral sclerosis (ALS) intubated for hypercapnic respiratory failure and aspiration pneumonia. The patient was successfully extubated, transitioned to non-invasive ventilation and lived at home comfortably for 17 months, with good functional status for the first year. This case highlights the potential of prolonged survival post extubation in patients with advanced ALS and respiratory failure. The patient was managed post-discharge in a multidisciplinary ALS clinic by experienced neuromuscular and pulmonary specialists.

scholarly journals Risk of unsuccessful noninvasive ventilation for acute respiratory failure in heterogeneous neuromuscular diseases: a retrospective study

2017 ◽  
Vol 9 (1) ◽  
Author(s):  
Hiroshi Kataoka ◽  
Hitoki Nanaura ◽  
Kaoru Kinugawa ◽  
Yuto Uchihara ◽  
Hiroya Ohara ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Clinical Course ◽  
Neuromuscular Diseases ◽  
Invasive Ventilation ◽  
Noninvasive Mechanical Ventilation ◽  
To Receive ◽  
Lateral Sclerosis

If invasive ventilation can be avoided by performing noninvasive mechanical ventilation (NIV) in patients with acute respiratory failure (ARF), the disease can be effectively managed. It is important to clarify the characteristics of patients with neuromuscular diseases in whom initial NIV is likely to be unsuccessful. We studied 27 patients in stable neuromuscular condition who initially received NIV to manage fatal ARF to identify differences in factors immediately before the onset of ARF among patients who receive continuous NIV support, patients who are switched from NIV to invasive ventilation, and patients in whom NIV is discontinued. Endpoints were evaluated 24 and 72 hours after the initiation of NIV. After 24 hours, all but 1 patient with amyotrophic lateral sclerosis (ALS) received continuous NIV support. 72 hours later, 5 patients were switched from NIV to invasive ventilation, and 5 patients continued to receive NIV support. 72 hours after the initiation of NIV, the proportion of patients with a diagnosis of ALS differed significantly among the three groups (P=0.039). NIV may be attempted to manage acute fatal respiratory failure associated with neuromuscular diseases, but clinicians should carefully manage the clinical course in patients with ALS.

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