RESUMEN
Clinical scales and external devices are two important ways to quantify the severity of motor symptoms for Parkinson′s disease (PD). As one representative of scales, the Unified Parkinson′s Disease Rating Scale is considered the "gold standard" in the comprehensive assessment of PD. External devices are divided into electrophysiological and mechanical devices based on the type of sensors. Both sides can monitor the PD motor symptoms objectively. Currently, numerous and ununified parameters of devices make the clinical quantification of PD symptoms still rely on scales. This article reviewed the progress on quantitative assessments of motor symptoms for Parkinson′s disease.
RESUMEN
Oral medicine and deep brain stimulation are two main treatments for Parkinson's disease (PD).But their long-term efficacies are decreasing,which limit the choice of patients in advanced stage.As a special way of sensory intervention,rhythmic cueing can improve gait parameters,reduce freezing of gait severity and improve gait-related mobility by activating the motor pathway directly,repairing internal clock,promoting internal dopamine release and improving cognitive function to maintain gait stability.Rhythmic auditory and visual cueing has a potential in PD treatment.
RESUMEN
Oral medicine and deep brain stimulation are two main treatments for Parkinson′s disease (PD). But their long-term efficacies are decreasing, which limit the choice of patients in advanced stage. As a special way of sensory intervention, rhythmic cueing can improve gait parameters, reduce freezing of gait severity and improve gait-related mobility by activating the motor pathway directly, repairing internal clock, promoting internal dopamine release and improving cognitive function to maintain gait stability. Rhythmic auditory and visual cueing has a potential in PD treatment.
RESUMEN
Maple syrup disease (MSUD) is a rare autosomal recessive disorder caused primarily by mutations of branched-chain keto acid dehydrogenase complex (BCKDC). BCKDC includes at least four pathogenic genes of BCKDHA, BCKDHB, DLD and DBT. The clinical manifestations of MSUD are complex, and the main symptoms at the early stage include difficulty in feeding, drowsiness, change in muscle tone and special urine flavor of maple syrup. As the disease progresses, convulsion, hypoglycemia, coma and systemic failure may occur. MSUD is easily missed or misdiagnosed during the neonatal period. This paper provides a review for recent progress made in research on MSUD including etiology, physiopathology, clinical manifestation, auxiliary examination and treatment, with a particular emphasis on genetic testing and treatment.