Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical and psychomotor development until the age of 3 years, who then developed progressive intention tremors, dysarthria, ataxia, and spastic tetraparesis. Episodes of acute metabolic distress were never observed. Magnetic resonance imaging disclosed abnormal signals within the white matter of the brain and cerebellum, suggesting leukodystrophy. Gas chromatography/mass spectrometry analysis revealed abnormally high levels of glutaric acid, dicarboxylic acids, and glycine derivatives in urine. Riboflavin therapy was initiated at 4 years of age, when the patient had already lost control of trunk and head posture. Consistent improvement rapidly occurred after riboflavin supplementation. Glutaric aciduria type II may cause brain damage, in spite of the absence of acute metabolic distress, and should be considered in the differential diagnosis of leukodystrophies.
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PMID:Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. 877 Nov 70

Dysarthria in people with Parkinson's disease (PD) has been widely studied. However, a limited number of studies have investigated lingual function during speech production in this population. This study aimed to investigate lingual kinematics during speech production using electromagnetic articulography (AG-200 EMA). The PD group consisted of eight dysarthric speakers with PD and was matched with a group of eight controls. The tongue tip and tongue back movements of all participants during sentence production were recorded by EMA. Results showed that, perceptually, the participants with PD were mildly dysarthric. Kinematic results documented comparable (for alveolar sentence production) and increased (for velar sentence production) range of lingual movement in the PD group when compared to the control group. Lingual movement velocity, acceleration, and deceleration were also increased in the PD group, predominantly for the release phase of consonant production during sentence utterances. The PD group had longer duration in the production of alveolar consonant and comparable duration in the production of velar consonant. The results of the present study suggest the presence of impaired lingual control in individuals with PD. Increased range of articulatory movement, primarily in the release phase of consonant production, may account for articulatory imprecision in this population.
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PMID:Kinematic analysis of lingual function in dysarthric speakers with Parkinson's disease: An electromagnetic articulograph study. 2058 28