BACKGROUND: Mutations of mitochondrial DNA (mtDNA) cause a broad spectrum of clinical phenotypes. Anecdotal evidence suggests that voice and swallow problems are a common feature of these diseases. AIMS: To characterize accurately the prevalence and severity of voice and swallow problems in a large cohort of @entity1 with @entity2383 . METHODS _ PROCEDURES: @entity1 with proven @entity2383 were sent validated questionnaires to assess both voice and swallow function. The presence of voice and swallow symptoms was correlated with other clinical features of @entity2383 in affected @entity1 . OUTCOMES _ RESULTS: From the original 177 @entity1 contacted, 98 swallowing status questionnaires and 96 Voice Handicap Index questionnaires were returned, response rates of 55% and 54%, respectively. Swallow: 48% of @entity1 reported more difficulties with swallowing than control @entity1 . @entity1 with single mtDNA deletions were most likely to report problems (65.2%), with @entity1 with an @entity28773 point mutation least likely (33.3%). All genotypes had a mean severity score in excess of the normal range, the highest mean score being found in the single large-scale mtDNA deletion group (10.12), the lowest in the @entity31336 group (5.56) Voice; 48% of @entity1 reported some difficulty with voice. @entity1 with single large-scale deletions showed the highest prevalence (65.2%), @entity1 with the @entity31336 mutation the lowest (33%). The most severe @entity1740 were reported by @entity1 with an @entity28773 point mutation. @entity1 with an @entity31336 point mutation had the mildest and lowest incidence of @entity1740 . All genotypes scored outside of the normal range expected on the VHI overall (>= 11.5 in control trials). @entity1 with an @entity28773 point mutation reported a significantly higher degree of physical voice handicap than @entity31336 @entity1 (13.13 versus 4.40, p = 0.02). In @entity1 with either single or multiple mtDNA deletions the likely pathophysiological mechanism is of proximal @entity425 , whereas in @entity1 with the @entity28773 mutation @entity6447 is the likely cause. CONCLUSIONS _ IMPLICATIONS: @entity1282 and @entity4653 have been identified as symptoms in previous research, however the prevalence and pathophysiology of these symptoms have not been explored. This paper indicates that voice and swallow problems are a common, though predominantly mild feature of @entity2383 and that there is a core group of pathophysiological symptoms linked to the presence of voice and swallowing problems. This paper recommends early referral to speech and language therapists to identify emerging @entity7364 and @entity1282 and to provide appropriate intervention.

Prevalence and severity of voice and swallowing difficulties in XXXX .

@entity1 :: ('9606', 'Species') :: ['participants', 'Patients', 'patients'] @entity4653 :: ('MESH:D004401', 'Disease') :: ['dysarthria'] @entity28773 :: ('m|SUB|A|8344|G', 'DNAMutation') :: ['m.8344A>G'] @entity31336 :: ('m|SUB|A|3243|G', 'DNAMutation') :: ['m.3243A>G'] @entity425 :: ('MESH:D018908', 'Disease') :: ['muscle weakness'] @entity7364 :: ('MESH:D055154', 'Disease') :: ['dysphonia'] @entity6447 :: ('MESH:D002524', 'Disease') :: ['cerebellar ataxia'] @entity1282 :: ('MESH:D003680', 'Disease') :: ['Dysphagia', 'dysphagia'] @entity1740 :: ('MESH:D014832', 'Disease') :: ['voice problems', 'voice difficulties'] @entity2383 :: ('MESH:D028361', 'Disease') :: ['mitochondrial disease']
@entity2383 :: (MESH:D028361,Disease) :: ['mitochondrial disease']
