{"id":552,"date":"2026-08-19T10:06:21","date_gmt":"2026-08-19T10:06:21","guid":{"rendered":"https:\/\/www.pinargencpinar.com\/?page_id=552"},"modified":"2026-09-04T10:21:30","modified_gmt":"2026-09-04T10:21:30","slug":"nadir-hastaliklar","status":"publish","type":"page","link":"https:\/\/www.pinargencpinar.com\/en\/nadir-hastaliklar\/","title":{"rendered":"Rare Diseases"},"content":{"rendered":"
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06<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Rare Diseases<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Assessment of Rare Neurological Disorders<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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In rare diseases, the diagnostic process requires the child\u2019s clinical findings, developmental characteristics, family history, and, when necessary, genetic testing to be evaluated together.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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What Are Rare Diseases?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Rare diseases are conditions that occur less frequently in the population and in which genetic factors may play an important role. In childhood, rare neurological diseases may present with various symptoms, including neurological findings, developmental differences, epilepsy, movement disorders, or muscle weakness.<\/p>

A detailed evaluation of the child\u2019s clinical characteristics, assessment of family history, and planning of genetic or metabolic investigations when necessary are important in the diagnosis of these disorders.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tThe Diagnostic Process in Rare Diseases Can Take Time.\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\tMany rare diseases can present with different neurological symptoms. Therefore, a comprehensive clinical evaluation and, when necessary, collaboration with specialists from different fields are important during the diagnostic process.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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\n\t\t\t\t\t\tThe child\u2019s neurological findings, developmental characteristics, and medical history are evaluated in detail.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\tThe presence of similar diseases, neurological findings occurring at an early age, and a family history of consanguinity are taken into consideration.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\tAppropriate genetic tests and molecular analyses may be planned based on the clinical findings.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\tDepending on the clinical presentation, imaging, metabolic investigations, or other diagnostic methods may be used.\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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Approach to Rare Neurological Disorders<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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The clinical findings and course of rare neurological disorders can vary considerably from one condition to another. Some disorders may present with epilepsy or developmental differences in early childhood, while others may manifest with movement disorders, muscle weakness, or other neurological findings.<\/p>

In the diagnostic approach, considering clinical evaluation, genetic testing, and, when necessary, other laboratory or imaging methods together may contribute to understanding the underlying cause of the condition.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n

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Scientific Research in Rare Diseases<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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Rare and undiagnosed diseases are an important area of Prof. Dr. P\u0131nar Gen\u00e7p\u0131nar\u2019s academic research. In addition to studies evaluating genetic and neurological findings together, she participates in research on the molecular mechanisms and diagnostic processes of rare diseases.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\tThe Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Pediatric Neurology<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\tManagement of rare and undiagnosed diseases: insights from researchers and healthcare professionals in T\u00fcrkiye\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Frontiers in Public Health<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\tHistone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Frontiers in Cell and Developmental Biology<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Other Areas of Expertise<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tEpilepsy\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tNeurogenetics\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPerinatal Neurology\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDevelopmental Neurology\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tEEG and Neurophysiology\t\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/h3>\n\t\t\t\t\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t
\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t<\/path><\/svg>\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\tDetailed Information<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n<\/div>\n\t\t<\/div>","protected":false},"excerpt":{"rendered":"

06 Nadir Hastal\u0131klar Nadir G\u00f6r\u00fclen N\u00f6rolojik Hastal\u0131klar\u0131n De\u011ferlendirilmesi Nadir hastal\u0131klarda tan\u0131 s\u00fcreci; \u00e7ocu\u011fun klinik bulgular\u0131n\u0131n, geli\u015fimsel \u00f6zelliklerinin, aile \u00f6yk\u00fcs\u00fcn\u00fcn ve gerekti\u011finde genetik incelemelerin birlikte de\u011ferlendirilmesini gerektirir. Nadir Hastal\u0131klar Nedir? Nadir hastal\u0131klar, toplumda daha az s\u0131kl\u0131kta g\u00f6r\u00fclen ve \u00f6nemli bir b\u00f6l\u00fcm\u00fcnde genetik nedenlerin rol oynad\u0131\u011f\u0131 hastal\u0131klar\u0131 kapsar. \u00c7ocukluk \u00e7a\u011f\u0131nda baz\u0131 nadir hastal\u0131klar n\u00f6rolojik bulgular, geli\u015fimsel farkl\u0131l\u0131klar,…<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_kad_post_transparent":"default","_kad_post_title":"hide","_kad_post_layout":"fullwidth","_kad_post_sidebar_id":"","_kad_post_content_style":"unboxed","_kad_post_vertical_padding":"hide","_kad_post_feature":"hide","_kad_post_feature_position":"","_kad_post_header":false,"_kad_post_footer":false,"_kad_post_classname":"","footnotes":""},"class_list":["post-552","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages\/552","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/comments?post=552"}],"version-history":[{"count":28,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages\/552\/revisions"}],"predecessor-version":[{"id":1347,"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/pages\/552\/revisions\/1347"}],"wp:attachment":[{"href":"https:\/\/www.pinargencpinar.com\/en\/wp-json\/wp\/v2\/media?parent=552"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}