Distinct acoustic features in spinal and bulbar muscular atrophy patients with laryngospasm

Tanaka, Seiya; Banno, Haruhiko; Katsuno, Masahisa; Suzuki, Keisuke; Suga, Noriaki; Hashizume, Akira; Mano, Tomoo; Araki, Atsuko; Watanabe, Haruo; Tazaki, Hiroshi; Yamamoto, Masahiko; Sobue, Gen

doi:10.1016/j.jns.2013.12.010

Cited by 15 publications

(5 citation statements)

References 33 publications

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“…Muscular weakness generally appears between 30 and 60 years of age, and affected individuals typically require a wheelchair 15 to 20 years after the onset of symptoms [2]. Patients occasionally experience laryngospasm, a sudden sensation of dyspnea [5,6], and often develop dysphagia at advanced stages, eventually resulting in aspiration or choking. Pneumonia and/or respiratory failure may occur at advanced stages of the disease [7], indicating that the management of swallowing and respiratory function is indispensable for the long-term care of patients with SBMA.…”

Section: Introductionmentioning

confidence: 99%

Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

et al. 2016

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The aim of this study was to characterize the respiratory function profile of subjects with spinal and bulbar muscular atrophy (SBMA), and to explore the underlying pathological mechanism by comparing the clinical and biochemical indices of this disease with those of amyotrophic lateral sclerosis (ALS). We enrolled male subjects with SBMA (n = 40) and ALS (n = 25) along with 15 healthy control subjects, and assessed their respiratory function, motor function, and muscle strength. Predicted values of peak expiratory flow (%PEF) and forced vital capacity were decreased in subjects with SBMA compared with controls. In SBMA, both values were strongly correlated with the trunk subscores of the motor function tests and showed deterioration relative to disease duration. Compared with activities of daily living (ADL)-matched ALS subjects, %PEF, tongue pressure, and grip power were substantially decreased in subjects with SBMA. Both immunofluorescence and RT-PCR demonstrated a selective decrease in the expression levels of the genes encoding the myosin heavy chains specific to fast-twitch fibers in SBMA subjects. The mRNA levels of peroxisome proliferator-activated receptor gamma coactivator 1-alpha and peroxisome proliferator-activated receptor delta were up-regulated in SBMA compared with ALS and controls. In conclusion, %PEF is a disease-specific respiratory marker for the severity and progression of SBMA. Explosive muscle strength, including %PEF, was selectively affected in subjects with SBMA and was associated with activation of the mitochondrial biogenesis-related molecular pathway in skeletal muscles.

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Section: Introductionmentioning

confidence: 99%

Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

et al. 2016

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“…Compared to the other MSD subtypes, dysarthria associated with Kennedy disease has been very little described in the literature. In previous studies, higher jitter, shimmer and HNR and hypernasality have been reported in only a subset of the patients with Kennedy disease [ 44 , 45 ]. In our data, no voice impairment was observed.…”

Section: Discussionmentioning

confidence: 99%

Differentiation of Motor Speech Disorders through the Seven Deviance Scores from MonPaGe-2.0.s

2022

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For the clinical assessment of motor speech disorders (MSDs) in French, the MonPaGe-2.0.s protocol has been shown to be sensitive enough to diagnose mild MSD based on a combination of acoustic and perceptive scores. Here, we go a step further by investigating whether these scores—which capture deviance on intelligibility, articulation, voice, speech rate, maximum phonation time, prosody, diadochokinetic rate—contribute to the differential diagnosis of MSDs. To this aim, we trained decision trees for two-class automatic classification of different pairs of MSD subtypes based on seven deviance scores that are computed in MonPaGe-2.0.s against matched normative data. We included 60 speakers with mild to moderate MSD from six neuropathologies (amyotrophic lateral sclerosis, Wilson, Parkinson and Kennedy disease, spinocerebellar ataxia, post-stroke apraxia of speech). The two-class classifications relied mainly on deviance scores from four speech dimensions and predicted with over 85% accuracy the patient’s correct clinical category for ataxic, hypokinetic and flaccid dysarthria; classification of the other groups (apraxia of speech and mixed dysarthria) was slightly lower (79% to 82%). Although not perfect and only tested on small cohorts so far, the classification with deviance scores based on clinically informed features seems promising for MSD assessment and classification.

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“…Ten percent of the participants reported this symptom. Previous reports suggest that the prevalence is higher and may depend on disease progression …”

Section: Discussionmentioning

confidence: 99%

Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy

et al. 2017

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Introduction: The effects of spinal bulbar muscular atrophy (SBMA) on quality of life (QoL) are not well understood. This study describes symptoms from the patient's perspective and the impact these symptoms have on QoL. Methods: We conducted open‐ended interviews with 21 adult men with genetically confirmed SBMA. Using a qualitative framework technique, we coded and analyzed interviews to identify symptoms and resulting themes. Results: From these interviews, 729 quotations were extracted. We identified 200 SBMA‐specific symptoms and 20 symptomatic themes. Weakness was mentioned by all interviewees. Symptoms within the domain of mental health and the specific themes of emotional issues and psychological impact were also frequently mentioned. Discussion: Numerous symptoms affect QoL for patients with SBMA. We identified previously unrecognized symptoms that are important to address in enhancing clinical care for patients with SBMA and in developing tools to evaluate efficacy in future clinical trials. Muscle Nerve 57: 40–44, 2018

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Distinct acoustic features in spinal and bulbar muscular atrophy patients with laryngospasm

Cited by 15 publications

References 33 publications

Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

Differentiation of Motor Speech Disorders through the Seven Deviance Scores from MonPaGe-2.0.s

Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy

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