"Distr\u00F2fia neuroaxonal infantil"@ca . . . . "256600"^^ . . . "12774778"^^ . . . . "Die Infantile Neuroaxonale Dystrophie (INAD) ist eine seltene angeborene neurodegenerative Erkrankung mit Dystrophie der Neuroaxone im Kindesalter. Synonyme sind: Seitelberger-Krankheit; INAD; INAD1; PLAN; Phospholipase A2-assoziierte Neurodegeneration Die Bezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1952 durch den \u00F6sterreichischen Neuropathologen Franz Seitelberger. INAD bzw. PLAN geh\u00F6ren zur Krankheitsgruppe der Neurodegeneration mit Eisenablagerung im Gehirn, fr\u00FCher Hallervorden-Spatz-Syndrom Als Sonderform (Atypische Form) von INAD gilt das Karak-Syndrom."@de . "Infantile neuroaxonal dystrophy"@en . "Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills."@en . . . . . "Infantile neuroaxonal dystrophy"@en . "\u0636\u0645\u0648\u0631 \u0627\u0644\u0645\u062D\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u0637\u0641\u0644\u064A"@ar . . . . . "8398"^^ . . . "La distr\u00F2fia neuroaxonal infantil \u00E9s un trastorn autos\u00F2mic recessiu rar que afecta principalment el sistema nervi\u00F3s. Els individus amb distr\u00F2fia neuroaxonal infantil normalment no presenten cap s\u00EDmptoma en n\u00E9ixer, per\u00F2 entre els 6 i els 18 mesos d'edat comencen a experimentar retards en l'adquisici\u00F3 de noves habilitats motrius i intel\u00B7lectuals, com ara caminar o comen\u00E7ar a parlar. Amb el temps, perden les habilitats pr\u00E8viament adquirides."@ca . "Infantile neuroaxonal dystrophy has an autosomal recessive pattern of inheritance."@en . "32201"^^ . "256600"^^ . . . . . . . . . "Die Infantile Neuroaxonale Dystrophie (INAD) ist eine seltene angeborene neurodegenerative Erkrankung mit Dystrophie der Neuroaxone im Kindesalter. Synonyme sind: Seitelberger-Krankheit; INAD; INAD1; PLAN; Phospholipase A2-assoziierte Neurodegeneration Die Bezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1952 durch den \u00F6sterreichischen Neuropathologen Franz Seitelberger. INAD bzw. PLAN geh\u00F6ren zur Krankheitsgruppe der Neurodegeneration mit Eisenablagerung im Gehirn, fr\u00FCher Hallervorden-Spatz-Syndrom Als Sonderform (Atypische Form) von INAD gilt das Karak-Syndrom."@de . "D019150" . "Distrofia neuroaxonal infantil"@es . . . . . . "Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills."@en . . . . "D019150"@en . . . . . "Infantile Neuroaxonale Dystrophie"@de . "Infantile neuroaxonal dystrophy"@en . . "Six months to two year of age"@en . "\u0636\u0645\u0648\u0631 \u0627\u0644\u0645\u062D\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u0637\u0641\u0644\u064A (\u0628\u0627\u0644\u0625\u0646\u062C\u0644\u064A\u0632\u064A\u0629: Infantile neuroaxonal dystrophy)\u200F \u064A\u0639\u062F \u0636\u0645\u0648\u0631 \u0627\u0644\u0645\u062D\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u0637\u0641\u0644\u064A \u0627\u0636\u0637\u0631\u0627\u0628\u064B\u0627 \u0646\u0645\u0627\u0626\u064A\u064B\u0627 \u0627\u0636\u0637\u0631\u0627\u0628\u0627\u062A \u0646\u0645\u0627\u0626\u064A\u0629 \u0634\u0627\u0645\u0644\u0629 \u0646\u0627\u062F\u0631\u064B\u0627 \u064A\u0624\u062B\u0631 \u0628\u0634\u0643\u0644 \u0623\u0633\u0627\u0633\u064A \u0639\u0644\u0649 \u0627\u0644\u062C\u0647\u0627\u0632 \u0627\u0644\u0639\u0635\u0628\u064A. \u0639\u0627\u062F\u0629 \u0644\u0627 \u064A\u0639\u0627\u0646\u064A \u0627\u0644\u0623\u0641\u0631\u0627\u062F \u0627\u0644\u0645\u0635\u0627\u0628\u0648\u0646 \u0628\u0636\u0645\u0648\u0631 \u0627\u0644\u0645\u062D\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u0637\u0641\u0648\u0644\u064A \u0645\u0646 \u0623\u064A \u0623\u0639\u0631\u0627\u0636 \u0639\u0646\u062F \u0627\u0644\u0648\u0644\u0627\u062F\u0629\u060C \u0648\u0644\u0643\u0646 \u0628\u064A\u0646 \u0639\u0645\u0631 6 \u064818 \u0634\u0647\u0631\u064B\u0627 \u064A\u0628\u062F\u0623\u0648\u0646 \u0641\u064A \u062A\u062C\u0631\u0628\u0629 \u062A\u0623\u062E\u064A\u0631\u0627\u062A \u0641\u064A \u0627\u0643\u062A\u0633\u0627\u0628 \u0645\u0647\u0627\u0631\u0627\u062A \u062D\u0631\u0643\u064A\u0629 \u0648\u0641\u0643\u0631\u064A\u0629 \u062C\u062F\u064A\u062F\u0629\u060C \u0645\u062B\u0644 \u0627\u0644\u0632\u062D\u0641 \u0623\u0648 \u0628\u062F\u0621 \u0627\u0644\u0643\u0644\u0627\u0645. \u0641\u064A \u0627\u0644\u0646\u0647\u0627\u064A\u0629 \u064A\u0641\u0642\u062F\u0648\u0646 \u0627\u0644\u0645\u0647\u0627\u0631\u0627\u062A \u0627\u0644\u0645\u0643\u062A\u0633\u0628\u0629 \u0633\u0627\u0628\u0642\u064B\u0627."@ar . . . . "\u0636\u0645\u0648\u0631 \u0627\u0644\u0645\u062D\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u0637\u0641\u0644\u064A (\u0628\u0627\u0644\u0625\u0646\u062C\u0644\u064A\u0632\u064A\u0629: Infantile neuroaxonal dystrophy)\u200F \u064A\u0639\u062F \u0636\u0645\u0648\u0631 \u0627\u0644\u0645\u062D\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u0637\u0641\u0644\u064A \u0627\u0636\u0637\u0631\u0627\u0628\u064B\u0627 \u0646\u0645\u0627\u0626\u064A\u064B\u0627 \u0627\u0636\u0637\u0631\u0627\u0628\u0627\u062A \u0646\u0645\u0627\u0626\u064A\u0629 \u0634\u0627\u0645\u0644\u0629 \u0646\u0627\u062F\u0631\u064B\u0627 \u064A\u0624\u062B\u0631 \u0628\u0634\u0643\u0644 \u0623\u0633\u0627\u0633\u064A \u0639\u0644\u0649 \u0627\u0644\u062C\u0647\u0627\u0632 \u0627\u0644\u0639\u0635\u0628\u064A. \u0639\u0627\u062F\u0629 \u0644\u0627 \u064A\u0639\u0627\u0646\u064A \u0627\u0644\u0623\u0641\u0631\u0627\u062F \u0627\u0644\u0645\u0635\u0627\u0628\u0648\u0646 \u0628\u0636\u0645\u0648\u0631 \u0627\u0644\u0645\u062D\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064A \u0627\u0644\u0637\u0641\u0648\u0644\u064A \u0645\u0646 \u0623\u064A \u0623\u0639\u0631\u0627\u0636 \u0639\u0646\u062F \u0627\u0644\u0648\u0644\u0627\u062F\u0629\u060C \u0648\u0644\u0643\u0646 \u0628\u064A\u0646 \u0639\u0645\u0631 6 \u064818 \u0634\u0647\u0631\u064B\u0627 \u064A\u0628\u062F\u0623\u0648\u0646 \u0641\u064A \u062A\u062C\u0631\u0628\u0629 \u062A\u0623\u062E\u064A\u0631\u0627\u062A \u0641\u064A \u0627\u0643\u062A\u0633\u0627\u0628 \u0645\u0647\u0627\u0631\u0627\u062A \u062D\u0631\u0643\u064A\u0629 \u0648\u0641\u0643\u0631\u064A\u0629 \u062C\u062F\u064A\u062F\u0629\u060C \u0645\u062B\u0644 \u0627\u0644\u0632\u062D\u0641 \u0623\u0648 \u0628\u062F\u0621 \u0627\u0644\u0643\u0644\u0627\u0645. \u0641\u064A \u0627\u0644\u0646\u0647\u0627\u064A\u0629 \u064A\u0641\u0642\u062F\u0648\u0646 \u0627\u0644\u0645\u0647\u0627\u0631\u0627\u062A \u0627\u0644\u0645\u0643\u062A\u0633\u0628\u0629 \u0633\u0627\u0628\u0642\u064B\u0627."@ar . "PLA2G6-Associated Neurodegeneration"@en . . . . . . . "1055817918"^^ . . . . . . . "NBK1675" . . "NBK1675"@en . "La distr\u00F2fia neuroaxonal infantil \u00E9s un trastorn autos\u00F2mic recessiu rar que afecta principalment el sistema nervi\u00F3s. Els individus amb distr\u00F2fia neuroaxonal infantil normalment no presenten cap s\u00EDmptoma en n\u00E9ixer, per\u00F2 entre els 6 i els 18 mesos d'edat comencen a experimentar retards en l'adquisici\u00F3 de noves habilitats motrius i intel\u00B7lectuals, com ara caminar o comen\u00E7ar a parlar. Amb el temps, perden les habilitats pr\u00E8viament adquirides."@ca . . "La distrofia neuroaxonal infantil es un trastorno generalizado del desarrollo raro que principalmente afecta el sistema nervioso. Los ni\u00F1os con distrofia neuroaxonal infantil no suelen presentar ning\u00FAn s\u00EDntoma al nacer, pero entre los 6 y los 18 meses de edad empiezan a experimentar retrasos en la adquisici\u00F3n de nuevas habilidades motoras e intelectuales, como gatear o empezar a hablar. Con el tiempo, pierden las habilidades previamente adquiridas."@es . . . . . "La distrofia neuroaxonal infantil es un trastorno generalizado del desarrollo raro que principalmente afecta el sistema nervioso. Los ni\u00F1os con distrofia neuroaxonal infantil no suelen presentar ning\u00FAn s\u00EDntoma al nacer, pero entre los 6 y los 18 meses de edad empiezan a experimentar retrasos en la adquisici\u00F3n de nuevas habilidades motoras e intelectuales, como gatear o empezar a hablar. Con el tiempo, pierden las habilidades previamente adquiridas."@es . "PLA2G6-Associated Neurodegeneration"@en . "Choroba Seitelbergera"@pl . . . . "INAD, Seitelberger disease"@en . . . "Choroba Seitelbergera, dzieci\u0119ca dystrofia neuroaksonalna (ang. Seitelberger disease, Seitelberger\u2019s neuroaxonal dystrophy, infantile neuroaxonal dystrophy, INAD) \u2013 rzadka, genetycznie uwarunkowana choroba demielinizacyjna charakteryzuj\u0105ca si\u0119 rozsianym tworzeniem sferoid\u00F3w, czyli dystroficznych akson\u00F3w. Klinicznie przypomina chorob\u0119 Hallervordena-Spatza i chorob\u0119 Pelizaeusa-Merzbachera. Jednostk\u0119 chorobow\u0105 opisa\u0142 jako pierwszy austriacki neuropatolog Franz Seitelberger. Wi\u0119kszo\u015B\u0107 przypadk\u00F3w choroby wi\u0105\u017Ce si\u0119 z mutacjami w genie w locus 22q13.1 koduj\u0105cym fosfolipaz\u0119."@pl . . . "32201" . "Choroba Seitelbergera, dzieci\u0119ca dystrofia neuroaksonalna (ang. Seitelberger disease, Seitelberger\u2019s neuroaxonal dystrophy, infantile neuroaxonal dystrophy, INAD) \u2013 rzadka, genetycznie uwarunkowana choroba demielinizacyjna charakteryzuj\u0105ca si\u0119 rozsianym tworzeniem sferoid\u00F3w, czyli dystroficznych akson\u00F3w. Klinicznie przypomina chorob\u0119 Hallervordena-Spatza i chorob\u0119 Pelizaeusa-Merzbachera. Jednostk\u0119 chorobow\u0105 opisa\u0142 jako pierwszy austriacki neuropatolog Franz Seitelberger. Wi\u0119kszo\u015B\u0107 przypadk\u00F3w choroby wi\u0105\u017Ce si\u0119 z mutacjami w genie w locus 22q13.1 koduj\u0105cym fosfolipaz\u0119."@pl .