Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A)

Autor: Patrick Krumm, Andreas Oettinger, Marius Horger, Adam P. Vogel, Matthis Synofzik, Natalie Rommel, Eva-Maria Kraus, Ludger Schöls
Rok vydání: 2017
Předmět:
Adult
Male
medicine.medical_specialty
Mitochondrial Diseases
Ataxia
medicine.medical_treatment
pathology [Deglutition Disorders]
Disease
Audiology
pathology [Ataxia]
Speech Disorders
Young Adult
030507 speech-language pathology & audiology
03 medical and health sciences
Dysarthria
0302 clinical medicine
Swallowing
pathology [Speech Disorders]
Motor speech
otorhinolaryngologic diseases
Humans
Medicine
Young adult
Molecular Biology
Aged
Rehabilitation
business.industry
complications [Deglutition Disorders]
Cell Biology
deficiency [DNA Polymerase gamma]
Middle Aged
Dysphagia
DNA Polymerase gamma
pathology [Mitochondrial Diseases]
ddc:540
POLG protein
human
Molecular Medicine
Female
complications [Speech Disorders]
medicine.symptom
Deglutition Disorders
0305 other medical science
business
030217 neurology & neurosurgery
complications [Ataxia]
Zdroj: Mitochondrion 37, 1-7 (2017). doi:10.1016/j.mito.2017.06.002
ISSN: 1567-7249
DOI: 10.1016/j.mito.2017.06.002
Popis: Background Mutations in the nuclear-encoded mitochondrial DNA polymerase gamma (POLG) can result in a wide spectrum of neurological deficits. A common presentation is progressive ataxia (POLG-A) which includes impaired speech and swallowing. The nature, severity and impact of these deficits in POLG-A is not known. A comprehensive quantitative and qualitative characterization of dysarthria and dysphagia in this recurrent ataxia disorder will assist in diagnostics, provide insights into the underlying pathology, and establish the foundation for future therapy trials. Methods 14 consecutive patients with POLG (9 females, mean age = 50.1 y, SD = 11.2) and 34 healthy controls were enrolled. Comprehensive assessments of motor speech and swallowing function, acoustic analysis of speech, videofluoroscopy and measures of quality of life were conducted. Results The speech profile of individuals with POLG-A was characterized by poor control of pitch and strain-strangled voice quality, reduced rate of speech and longer variable silences between words, and articulatory breakdown including imprecise consonants and vowel distortions. Swallowing deficits included slower initiation of the swallow reflex, poor control of bolus and late epiglottic closure. Speech and swallowing related quality of life was worse than healthy controls. Conclusions The dysarthria and dysphagia profiles in POLG-A are largely symptomatic of impaired timing, indicating a mainly spinocerebellar deficit. Dysarthria and dysphagia contribute to a significant impairment in functional quality of life, and progress distinctly from other POLG-A dysfunctions like ataxia or cognitive impairment. Our assessments establish meaningful patient focused outcome measures that will be suitable for use in natural history studies and clinical trials.
Databáze: OpenAIRE
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