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

Three patients with adult-onset neuronal-ceroid lipofuscinosis (Kufs' disease) are presented. Two cases were familial (autosomal recessive inheritance) and 1 case was possibly sporadic. The main clinical feature was progressive deterioration of cognitive functions. In 2 siblings, aged 37 and 41, dementia was associated with personality and behaviour changes, suggesting a psychotic disorder and with dysarthria and tic-like dyskinetic movements. In a third patient, dementia was only associated with an asymptomatic pigmentary retinal degeneration. CT scan revealed diffuse cerebral atrophy in all cases. Diagnosis was established by brain biopsy in 2 cases. Autofluorescence emission and absorption spectra from the abnormal pigment was studied and was not found contributive.
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PMID:[Dementia and psychiatric disorders in Kufs disease]. 229 Oct 38

A 40-year-old man with severe Gilles de la Tourette's syndrome characterized by forceful self-injurious motor tics, coprolalia, and obsessive-compulsive disorder had bilateral anterior cingulotomies and bilateral infrathalamic lesions placed stereotactically during two neurosurgical procedures. During the second procedure, the patient acutely developed a marked dysarthria. Postoperatively, he manifested a severe gait disturbance with postural instability, bradykinesia, axial rigidity, micrographia, and a profound swallowing disorder. MRI showed asymmetric (left > right) low-density areas in an infrathalamic region as well as low-density areas bilaterally in the anterior cingulate gyri. Although the patient's tic and obsessive-compulsive symptoms improved, the self-injurious motor tics along with other motor and phonic tics have recurred. The patient's speech remains largely unintelligible 8 months following the last surgical procedure, and the other neurologic deficits remain unchanged.
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PMID:Severe disturbances in speech, swallowing, and gait following stereotactic infrathalamic lesions in Gilles de la Tourette's syndrome. 849 43

Focal dystonias are relatively rare and significantly disabling disorders. These include cervical dystonia, blepharospasm and hemifacial spasm. The spasmodic torticollis consists of tonic posturing of the head away from its neutral position or twisting of the cervical muscles. The blepharospasm is an abnormal blinking, eyelid tic or twitch resulting from any cause. The hemifacial spasm is an involuntary unilateral twitching of the facial muscle. Patients affected by focal dystonias are predominantly females, and many times psychical stress can be revealed. The pathogenesis may involve dysfunction of the basal ganglia and brain stem although the exact mechanism remains to be elucidated. The patients need to be diagnosed and treated in centers specialized in movement disorders. Although many drug treatments can be beneficial, the most effective treatment is the local Botulinum toxin injection into the affected muscles. This neurotoxin produces temporary neuromuscular blockade, which reveals the symptoms and pain. The effect of the toxin is temporary and, therefore, the injection needs to be repeated every 6-12 weeks. The most common side effects are hypersensitivity, bleeding, hematoma, ptosis, facial spasm, dysphasia or dysarthria. With the use of proper dose and injection sites these side effects can be avoided.
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PMID:[Clinical symptoms, diagnosis and treatment of focal dystonias]. 1176 Jun 45

A 59-year-old man with end-stage renal disease was brought to our emergency department with complaints of headache, nausea, dysarthria, tic, and weakness involving the bilateral arms and legs. He had the similar episode 4 month before, when he was treated elsewhere. The patient had received hemodialysis three times per week. His medications included for hypertension. On examination at his arrival, he was alert with reduced concentration and incoherent thoughts. The blood pressure was 181/87 mmHg and other vital signs were normal. Neurological findings showed slight dysarthria and slow movements but no other abnormalities. Laboratory data showed increased serum creatinine and potassium presumably for a session of periodical hemodialysis but normal sodium concentration. His cerebrospinal fluid examination was normal. We treated him by hemodialysis. Diagnosis of PRES was most likely because of the clinical features and the MRI findings. His symptoms had disappeared immediately and completely after we controlled high blood pressure. MRI on 13 days after admission showed the improvement of the abnormal findings. Although the pathophysiology of PRES is incompletely understood, renal failure was known as one of the risk factors. A relative lack of sympathetic innervation of posterior circulation could not protect the area when severe hypertension makes auto-regulatory control collapsed. However, PRES of the brainstem is uncommon although the posterior circulation involves it. Because control of his hypertension was not appropriate in the outpatient settings before this event, it could have contributed to the recurrence in this patient.
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PMID:Recurrent posterior reversible encephalopathy syndrome of the brainstem in a hypertensive patient with end-stage renal disease. 2511 39

The efficacy of deep brain stimulation (DBS) for refractory Tourette syndrome (TS) is accepted, but whether the efficacy of DBS treatment in the Japanese population is equivalent to those reported internationally and whether adverse effects are comparable are not yet known. This study evaluated the clinical practice and outcome of DBS for TS in a Japanese institution. This study included 25 consecutive patients with refractory TS treated with thalamic centromedian-parafascicular nucleus DBS. The severity of tics was evaluated with the Yale Global Tic Severity Scale (YGTSS) before surgery, at 1 year after surgery, and at the last follow-up of 3 years or more after surgery. The occurrence of adverse events, active contact locations, and stimulation conditions were also evaluated. YGTSS tic severity score decreased by average 45.2% at 1 year, and by 56.6% at the last follow-up. The reduction was significant for all aspects of the scores including motor tics, phonic tics, and impairment. The mean coordinates of active contacts were 7.62 mm lateral to the midline, 3.28 mm posterior to the midcommissural point, and 3.41 mm above anterior commissure-posterior commissure plane. Efficacy and stimulation conditions were equivalent to international reports. The stimulation-induced side effects included dysarthria (32.0%) and paresthesia (12.0%). Device infection occurred in three patients (12.0%) as a surgical complication. The DBS device was removed because of infection in two patients. DBS is an effective treatment for refractory TS, although careful indication is necessary because of the surgical risks and unknown long-term outcome.
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PMID:Deep Brain Stimulation for Refractory Tourette Syndrome: Electrode Position and Clinical Outcome. 3323 75