[Rapid-onset dystonia-parkinsonism: sporadic form]. 2008

J Romero-López, and M J Moreno-Carretero, and D Escriche-Jaime, and E Corredera-García
Complejo Hospitalario Universitario de Vigo, Vigo, España. jesus.romero.lopez@sergas.es

BACKGROUND The rapid-onset dystonia-parkinsonism is a movement disorder which associates dystonic symptoms, especially those affecting orofacial muscles, and parkinsonian symptoms. All these symptoms start suddenly and then they stabilize along the process. This disorder usually occurs to young adults and is an autosomal dominant trait with a reduced penetrance, although some sporadic cases have been reported. The genetic alteration is found on the chromosome 19q13, where the mutated gene ATP1A3 has been identified. This gene is linked to the regulation of the sodium-potassium pump. METHODS A 16-year-old woman developed a sudden onset of dystonic symptoms which affected her higher and lower limbs, bulbar muscles, together with severe dysarthria and dysphagia. The onset occurred over hours, but her symptoms have been stabilized for years. No movement or other neurological disorders are reported in her family history. CONCLUSIONS This is probably a sporadic case of rapid-onset dystonia-parkinsonism, and it is the second one reported in Spain. Diagnostic criteria, differential diagnosis, etiopahogenesis and genetic alterations are also discussed.

UI MeSH Term Description Entries
D010300 Parkinson Disease A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75) Idiopathic Parkinson Disease,Lewy Body Parkinson Disease,Paralysis Agitans,Primary Parkinsonism,Idiopathic Parkinson's Disease,Lewy Body Parkinson's Disease,Parkinson Disease, Idiopathic,Parkinson's Disease,Parkinson's Disease, Idiopathic,Parkinson's Disease, Lewy Body,Parkinsonism, Primary
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004421 Dystonia An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77) Muscle Dystonia,Dystonia, Diurnal,Dystonia, Limb,Dystonia, Paroxysmal,Diurnal Dystonia,Dystonia, Muscle,Limb Dystonia,Paroxysmal Dystonia
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D055815 Young Adult A person between 19 and 24 years of age. Adult, Young,Adults, Young,Young Adults

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