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SM ISO690:2012 DRUTA, Regina. Myoclonus-dystonia masquerading as Wilson. In: MedEspera: International Medical Congress for Students and Young Doctors, Ed. 7th edition, 3-5 mai 2018, Chişinău. Chisinau, Republic of Moldova: 2018, 7, pp. 36-37. |
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MedEspera 7, 2018 |
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Congresul "International Medical Congress for Students and Young Doctors" 7th edition, Chişinău, Moldova, 3-5 mai 2018 | ||||||
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Pag. 36-37 | ||||||
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Background. Myoclonus dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclo nus). About half of individuals with myoclonus dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis). Case report. A 26 year old man consulted his doctor because of involuntary movement of the eyeball and involuntary muscular contractions on the left side of the body. It progressed to involuntary movement of the ne ck (torticollis) and left arm. Postural tremor is also present in the left arm. The laboratory results showed slighty diminished ceruloplasmin enzyme and blood copper, but the urine copper was three times higher than normal. The patient has been suspected of Wilson’s disease but the genetic test came out negative and treatment with cuprinil has been ineffective. The patient also tried taking Isicom (levodopa), Romparkin (central anticholinergic), Haloperidol (neuroleptic) with no benefit. In 2014 he suffere d a surgery for herniated disc C5 C6 with no symptom improvement. The cerebral MRI and electromyography has shown no significant changes. The Wilson disease diagnosis can be excluded, but to confirm Myoclonus dystonia, it’s needed to make another genetic m olecular testing for SGCE. This gene translates a transmembrane protein in the dystrophin associated glycoprotein complex found in skeletal muscle and neurons. If the test is positive, the most effective treatment would be a surgical intervention of Deep B rain Stimulation (DBS) in internal globus pallidus and the central intermediate nucleus of the thalamus, which can cure both the myoclonus and dystonia. Conclusions. This case illustrates the difficulty of assigning a clear diagnosis regarding dystonia an d the complexity of etiologies. Nonetheless, a correct diagnosis and treatment can improve the patient’s life quality substantially. |
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Cuvinte-cheie myoclonic dystonia, torticollis, Wilson’s disease, DBS |
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