scholarly journals Amyotrophic Lateral Sclerosis Presenting Respiratory Failure as the Sole Initial Manifestation

2014 ◽  
Vol 6 (2) ◽  
pp. 213-216 ◽  
Author(s):  
Fuyuki Tateno ◽  
Ryuji Sakakibara ◽  
Kengo Kawashima ◽  
Masahiko Kishi ◽  
Yohei Tsuyusaki ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Failure ◽  
Initial Manifestation ◽  
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 Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A – SOD1 Mutation

2021 ◽  
Vol 12 ◽  
Author(s):  
Giuliana Capece ◽  
Mauro Ceroni ◽  
Enrico Alfonsi ◽  
Ilaria Palmieri ◽  
Cristina Cereda ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Vocal Cord Paralysis ◽  
Bilateral Vocal Cord Paralysis ◽  
Initial Manifestation ◽  
Long Survival ◽  
Sod1 Mutation ◽  
Insidious Onset ◽  
Different Populations ◽  
Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Although its etiology is still unknown, many genes have been found to be implicated in ALS pathogenesis. The Cu/Zn superoxide dismutase (SOD1) gene was the first to be identified. Currently, more than 230 mutations in the SOD1 gene have been reported. p.D90A (p. Asp90Ala) is the most common SOD1 mutation worldwide. It shows both autosomal and recessive inheritance in different populations. To date, five Italian patients with the heterozygous p.D90A mutation have been reported. None of them complained of laryngological symptoms as the initial manifestation of ALS, although they had atypical clinical features. We describe a long-survival patient carrying heterozygous p.D90A mutation who presented with severe laryngospasm due to bilateral vocal cord paralysis. We suggest that genetic analysis may help to diagnose ALS with insidious onset like hoarseness, laryngospasm, and other type of voice disturbances.

Sign in / Sign up

Export Citation Format

Share Document