Perioral and tongue fasciculations in Kennedy’s disease

Pedroso, José Luiz; Vale, Thiago Cardoso; Barsottini, Orlando Graziani Póvoas; Oliveira, Acary; Espay, Alberto J.

doi:10.1007/s10072-017-3170-8

Cited by 5 publications

(2 citation statements)

References 6 publications

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“…When the lower and/or upper motor neurons, which both innervate the orofacial and laryngeal regions, are damaged, motor speech function is altered. As a result, dysarthria is common in these three pathologies (Atsuta et al, 2006;Banno et al, 2017;Bede & Finegan, 2018;Finegan et al, 2019;Miyata et al, 2019;Pedroso et al, 2018;Praline et al, 2008;Querin et al, 2018;Tomik et al, 2006;Turner et al, 2020;Yunusova et al, 2019). The Mayo Clinic system (Darley et al, 1969a(Darley et al, , 1969b(Darley et al, , 1975 classifies dysarthria perceptually into several subgroups, based on the underlying neuropathology.…”

Section: Introductionmentioning

confidence: 99%

Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases

Lévêque

Slis

Lancia

et al. 2022

J Speech Lang Hear Res

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Purpose: This study aims to investigate acoustic change over time as biomarkers to differentiate among spastic–flaccid dysarthria associated with amyotrophic lateral sclerosis (ALS), spastic dysarthria associated with primary lateral sclerosis (PLS), flaccid dysarthria associated with spinal and bulbar muscular atrophy (SBMA), and to explore how these acoustic parameters are affected by dysarthria severity. Method: Thirty-three ALS patients with mixed flaccid–spastic dysarthria, 17 PLS patients with pure spastic dysarthria, 18 SBMA patients with pure flaccid dysarthria, and 70 controls, all French speakers, were included in the study. Speakers produced vowel–glide sequences targeting different vocal tract shape changes. The mean and coefficient of variation of the total squared change of mel frequency cepstral coefficients were used to capture the degree and variability of acoustic changes linked to vocal tract modifications over time. Differences in duration of acoustic events were also measured. Results: All pathological groups showed significantly less acoustic change compared to controls, reflecting less acoustic contrast in sequences. Spastic and mixed spastic–flaccid dysarthric speakers showed smaller acoustic changes and slower sequence production compared to flaccid dysarthria. For dysarthria subtypes associated with a spastic component, reduced degree of acoustic change was also associated with dysarthria severity. Conclusions: The acoustic parameters partially differentiated among the dysarthria subtypes in relation to motor neuron diseases. While similar acoustic patterns were found in spastic–flaccid and spastic dysarthria, crucial differences were found between these two subtypes relating to variability. The acoustic patterns were much more variable in ALS. This method forms a promising clinical tool as a diagnostic marker of articulatory impairment, even at mild stage of dysarthria progression in all subtypes.

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Section: Introductionmentioning

confidence: 99%

Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases

Lévêque

Slis

Lancia

et al. 2022

J Speech Lang Hear Res

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“…Twitching movements of the chin (perioral fasciculations-myokymia), known as a "quivering chin," may occur due to spontaneous motor unit discharges or voluntary contractions of the perioral muscles [39]. Perioral fasciculations are also a significant clinical clue to the diagnosis of Kennedy's disease, especially when associated with other characteristics of the condition, such as proximal muscle atrophy and gynecomastia [40]. Severely affected individuals, who are often non-ambulatory, are at risk for aspiration pneumonia and respiratory failure due to weakened bulbar and respiratory muscles [41].…”

Section: Clinical Presentationmentioning

confidence: 99%

Spinal and Bulbar Muscular Atrophy – Genetic Causes, Clinical Presentation and Treatment Perspectives

Emerla,

Małek,

Karłowicz

et al. 2024

J Educ Health Sport

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Introduction and Purpose: Spinal bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare genetic disorder characterized by progressive muscle weakness and atrophy. The purpose of this review is to provide a comprehensive understanding of SBMA, including its pathophysiology, clinical presentation, diagnostic tools, and therapeutic approaches. By examining the latest research findings, we aim to highlight the challenges inherent in managing SBMA. Material and method: For this review, we performed searches across multiple databases, including PubMed, Elsevier, Medline, and Google Scholar. Description of the State of Knowledge: SBMA arises from mutations in the androgen receptor (AR) gene, leading to the accumulation of toxic proteins and subsequent neurodegeneration. Clinical manifestations primarily involve muscle weakness, tremors, and difficulties with speech and swallowing, with symptoms typically appearing in mid-life. While no treatment currently modifies disease progression, symptomatic management and supportive care play crucial roles in enhancing quality of life for affected individuals. Recent research has focused on understanding the underlying mechanisms of SBMA and developing targeted therapies to address them. However, challenges remain in translating these findings into effective treatments. Conclusions: SBMA represents a complex and challenging neurodegenerative disorder with significant implications for affected individuals and their families. While our understanding of SBMA has advanced in recent years, much remains to be elucidated regarding its pathophysiology and optimal management strategies. Continued research efforts are essential to develop novel therapeutic interventions that can effectively target the underlying mechanisms of SBMA and improve outcomes for patients.

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An Understanding of Different Mechanisms Leading to Neurodegenerative Diseases

Sami

Salama

2023

Handbook of Neurodegenerative Disorders

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Perioral and tongue fasciculations in Kennedy’s disease

Cited by 5 publications

References 6 publications

Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases

Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases

Spinal and Bulbar Muscular Atrophy – Genetic Causes, Clinical Presentation and Treatment Perspectives

An Understanding of Different Mechanisms Leading to Neurodegenerative Diseases

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