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Revista Portuguesa de Medicina Geral e Familiar

versão impressa ISSN 2182-5173

Resumo

CUNHA, Hugo Taveira  e  LOPES, Filipa Borges. Just another work accident?: A case report of Huntington chorea. Rev Port Med Geral Fam [online]. 2016, vol.32, n.2, pp.110-116. ISSN 2182-5173.

Introduction: Abnormal involuntary movements, also known as dyskinesias, may manifest as chorea, athetosis, tremor, myoclonus, asterixis, spasticity, dystonia and tics. Huntington disease is the most common cause of hereditary chorea and is a cause of morbidity and premature death. Relatives and others living with the patient are often the first to notice chorea in a patient. Family physicians have a special opportunity to diagnose movement disorders. Case description: We present the case of a 41 year-old married Caucasian male living in a nuclear family. He was a construction worker but had been unemployed for one year. There was no relevant previous medical history. His father died at age 56 with “Parkinson disease”, according to one family member. He was the father of two healthy 5 year-old twin boys. A relative of the patient went to the family physician in January 2014, stating that the health of the patient had changed in the past three years. He noted ‘uncoordinated and clumsy movements' of the limbs, memory changes, and speech difficulties. These changes were similar to the abnormal movements that the patient's father had shown. The relative also highlighted the history of a work accident he suffered in construction work in 2012, in which he a cut his right hand on a grinding wheel, with permanent loss of function. Due to the concerns of the family, the patient visited the family physician one month later. He was referred for consultation with a neurologist and Huntington disease was diagnosed as the cause of the chorea. Comment: Movement disorders are diagnosed by taking a good clinical history (including obtaining information from family members and others living with the patient) and careful physical examination. Chorea may include the inability to maintain movement during motor tasks and this may predispose to accidents, as in this case.

Palavras-chave : Dyskinesia; Family; Family Physician; Huntington Disease; Occupational Accident.

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