{"id":22268,"date":"2022-08-31T07:55:49","date_gmt":"2022-08-31T07:55:49","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22268"},"modified":"2022-08-31T07:55:49","modified_gmt":"2022-08-31T07:55:49","slug":"brain-dopamine-serotonin-vesicular-transport-disease-bdsvtd-slc18a2-gene","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/brain-dopamine-serotonin-vesicular-transport-disease-bdsvtd-slc18a2-gene\/","title":{"rendered":"Brain dopamine-serotonin vesicular transport disease (BDSVTD) \u2013 SLC18A2 gene"},"content":{"rendered":"<p><u>Also known as<\/u>: Parkinsonism-dystonia 2, infantile-onset<\/p>\n<p>&#8211; <strong>OMIM#618049 <\/strong><a href=\"https:\/\/omim.org\/entry\/618049\">https:\/\/omim.org\/entry\/618049<\/a><\/p>\n<h4>1. The disease:<\/h4>\n<p>A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.<\/p>\n<h4>2. The symptoms:<\/h4>\n<p>Disease onset presents in infancy with hypotonia, loss of acquired head control and persistent crying and eye deviation. <em>Lack of early signs or symptoms does not exclude the diagnosis. <\/em><\/p>\n<p>Motor development is delayed, and later manifestations include severe parkinsonism, dystonia, ataxia, oculogyric crises, sleep and mood disturbances, temperature instability, excessive diaphoresis, ptosis, and postural hypotension.<\/p>\n<p>Symptoms show no diurnal variation and do not improve with vitamin B12 or folinic acid intake and worsened after administration of L-dopa.<\/p>\n<h4>3. Actions to take in case of early diagnosis:<\/h4>\n<ul>\n<li>Laboratorial evaluation can be done as the analysis of neurotransmitters or measurement of monoamine metabolites in the CSF, even though it was not altered in the first described patients.<\/li>\n<li>BDSVTD is a lifelong disease requiring lifetime management and regular follow-up with a Paediatric Neurology Center Management is provided by multidisciplinary team.<\/li>\n<li>Oral treatment with a direct dopamine-receptor agonist as <strong><em><u>pramipexole<\/u><\/em><\/strong> improves dystonia, parkinsonism, cognitive and motor skills with better outcomes as earlier as it is given.<\/li>\n<li><strong><em><u>Agents\/circumstances to avoid<\/u><\/em><\/strong>: treatment with levodopa-carbidopa seems to worsen dystonia and leads to major deterioration.<\/li>\n<li>Genetic counselling should be offered to at-risk family members.<\/li>\n<\/ul>\n<h4>4. For more information:<\/h4>\n<p><strong>Orphanet:<\/strong> <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=22091&amp;Disease_Disease_Search_diseaseGroup=SLC18A2&amp;Disease_Disease_Search_diseaseType=Gen&amp;Disease(s)\/group%20of%20diseases=Brain-dopamine-serotonin-vesicular-transport-disease&amp;title=Brain%20dopamine-serotonin%20vesicular%20transport%20disease&amp;search=Disease_Search_Simple\">https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=22091&amp;Disease_Disease_Search_diseaseGroup=SLC18A2&amp;Disease_Disease_Search_diseaseType=Gen&amp;Disease(s)\/group%20of%20diseases=Brain-dopamine-serotonin-vesicular-transport-disease&amp;title=Brain%20dopamine-serotonin%20vesicular%20transport%20disease&amp;search=Disease_Search_Simple<\/a><\/p>\n<p><strong>Biblio :<\/strong> Rilstone JJ, Alkhater RA, Minassian BA. Brain dopamine-serotonin vesicular transport disease and its treatment. <em>N Engl J Med<\/em>. 2013;368(6):543-550. PMID: 23363473.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Also known as: Parkinsonism-dystonia 2, infantile-onset &#8211; OMIM#618049 https:\/\/omim.org\/entry\/618049 1. The disease: A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. 2. The symptoms: Disease onset presents in infancy with hypotonia, loss of acquired head control and persistent crying and eye deviation. Lack of early signs or&#8230;<\/p>\n","protected":false},"author":1,"featured_media":22267,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[42],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22268"}],"collection":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/comments?post=22268"}],"version-history":[{"count":0,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22268\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media\/22267"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media?parent=22268"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22268"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22268"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}