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Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
Linden Jr., Helio van der; Cobas, Christiane; Duarte, Andre Felipe Pinto; Masruha, Marcelo Rodrigues.
  • Linden Jr., Helio van der; Centro de Reabilitação Dr. Henrique Santillo. Departamento de Neurologia Pediátrica. Goiânia. BR
  • Cobas, Christiane; Instituto de Neurologia de São Paulo. Centro de Doenças Raras. São Paulo. BR
  • Duarte, Andre Felipe Pinto; Hospital Universitário de Juiz de Fora. Juiz de Fora. BR
  • Masruha, Marcelo Rodrigues; Instituto de Neurociencias do Espírito Santo. Vitória. BR
J. inborn errors metab. screen ; 11: e20230008, 2023. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1514439
ABSTRACT
Abstract Aromatic L-Amino acid decarboxylase (AADC) deficiency is a rare neurometabolic disorder due to a homozygous or compound heterozygous pathogenic variant of the DDC gene, resulting in low synthesis of the biogenic amines dopamine, serotonin, epinephrine, and norepinephrine. Most patients had severe expression of the disease with global developmental delay, early hypotonia, movement disorders such as oculogyric crises, tremor, and dystonia. Oromandibular dystonia (OMD) is rarely recognized in patients with AADC deficiency. The aim of this study was to describe OMD in detail in 4 patients with AADC deficiency. OMD occurred in isolated form or in association with oculogyric crises, increasing the difficulty in care patients during the crises. The main form of OMD was tongue dystonia associated with mouth opening dystonia. AADC deficiency must be included in the list of genetic causes of OMD.


Texto completo: Disponible Índice: LILACS (Américas) Idioma: Inglés Revista: J. inborn errors metab. screen Asunto de la revista: Medicina Cl¡nica / Patologia Año: 2023 Tipo del documento: Artículo País de afiliación: Brasil Institución/País de afiliación: Centro de Reabilitação Dr. Henrique Santillo/BR / Hospital Universitário de Juiz de Fora/BR / Instituto de Neurociencias do Espírito Santo/BR / Instituto de Neurologia de São Paulo/BR

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Texto completo: Disponible Índice: LILACS (Américas) Idioma: Inglés Revista: J. inborn errors metab. screen Asunto de la revista: Medicina Cl¡nica / Patologia Año: 2023 Tipo del documento: Artículo País de afiliación: Brasil Institución/País de afiliación: Centro de Reabilitação Dr. Henrique Santillo/BR / Hospital Universitário de Juiz de Fora/BR / Instituto de Neurociencias do Espírito Santo/BR / Instituto de Neurologia de São Paulo/BR