Browse Items (12 total)

Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature,…

AimThis cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory-swallow coupling in individuals with ataxic swallowing. MethodTwenty participants (11 males, 9 females; range 9-21y) with ataxia…

Background: Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome. Methods: Twenty-six…

Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA. Methods:…

Contemporary classification of human disease derives from observational correlation between pathological analysis and clinical syndromes. Characterizing disease in this way established a nosology that has served clinicians well to the current time,…

The question of suffering and its relation to organic illness has rarely been addressed in the medical literature. This article offers a description of the nature and causes of suffering in patients undergoing medical treatment. A distinction based…
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