Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report reviews the lateralising and localising signs of epileptic seizures in respect to the differential diagnosis of epilepsy. The lateralising value of epileptic signs and symptoms can frequently be derived from the neuroanatomy. Focal clonic, focal tonic, and versive seizures as well as ictal unilateral dystonia are associated with a seizure onset zone in the contralateral hemisphere. Postictal nose wiping is performed with the hand ipsilateral to the epileptogenic zone. Similarly, unilateral blinking points to an ipsilateral seizure onset. Automatisms with preserved consciousness, ictal speech, and vomiting correlate to an epileptogenic zone in the non-dominant hemisphere, while postictal dysphasia is produced by seizures arising from the dominant hemisphere. Lateralising and localising signs and symptoms of epileptic seizures are of great help in the differential diagnosis of epilepsy from the first diagnosis of epileptic events to presurgical video-EEG monitoring.
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PMID:[Lateralizing and localizing signs and symptoms of epileptic seizures: significance and application in clinical practice]. 1168 74

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

We reported three siblings with complicated hereditary spastic paraplegia. The striking features in these patients were characterized by early onset of gait disturbance, mental deficiency, and dystonia. The most likely diagnosis was Mast syndrome. Patient 1: A 44 years-old woman. She first developed gait disturbances at age of 8. She was admitted in our hospital because of progressive spastic paraplegia. Neurological examination revealed mental deficiency, saccadic pursuit eye movement, speech disturbance of cerebellar type, ataxia, and spastic paraplegia. She showed also dystonia in the face, tongue, and trunk. MRI showed cerebellar atrophy. Patient 2: A 51 years-old brother of the patient 1. He had mentally retarded. Late teens he developed gait disturbance. Gradually he manifested spastic paraplegia, dysarthria, dysphasia, mental deficiency, and ataxia. He also showed incontinence of urine and feces. Then he became bedridden, apathetic, and showed forced crying. MRI showed diffuse brain atrophy. Patient 3: A 48 year-old woman. This woman, a sister of the patient 1, showed progressive gait disturbance and dysarthria. She also developed incontinence, apathy, and dystonia. She became bedridden, responding to simple questions with only occasional single-word answers. Her speech was slurred, and spastic paraplegia was noted. MRI showed diffuse brain atrophy including marked atrophy of the cerebellum.
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PMID:[A family of hereditary spastic paraplegia with dementia, ataxia, and dystonia]. 1199 89

Lingual dystonia is a debilitating type of oromandibular dystonia characterized by involuntary, often task-specific, contractions of the tongue muscle activated by speaking or eating. Botulinum neurotoxin (BoNT) has been used to treat lingual dystonia; however, it is known to cause serious complications, such as dysphasia and aspiration. The purpose of this study was to evaluate the efficacy and adverse effects of individualized BoNT therapy for lingual dystonia. One-hundred-and-seventy-two patients (102 females and 70 males, mean age: 46.2 years) with lingual dystonia were classified into four subtypes based on symptoms of involuntary tongue movements: protrusion (68.6%), retraction (16.9%), curling (7.6%), and laterotrusion (7.0%). Patients were treated with BoNT injection into the genioglossus and/or intrinsic muscles via individualized submandibular and/or intraoral routes. Results were compared before and after BoNT therapy. Botulinum neurotoxin was injected in 136 patients (mean: 4.8 injections). Clinical sub-scores (mastication, speech, pain, and discomfort) in a disease-specific rating scale were reduced significantly (p < 0.001) after administration. Comprehensive improvement after BoNT injection, assessed using the rating scale, was 77.6%. The curling type (81.9%) showed the greatest improvement, while the retraction type showed the least improvement (67.9%). Mild and transient dysphasia occurred in 12.5% of patients (3.7% of total injections) but disappeared spontaneously within several days to two weeks. No serious side effects were observed. With careful diagnosis of subtypes and a detailed understanding of lingual muscle anatomy, individualized BoNT injection into dystonic lingual muscles can be effective and safe.
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PMID:Botulinum Neurotoxin Therapy for Lingual Dystonia Using an Individualized Injection Method Based on Clinical Features. 3065 20