Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
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...
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| Format: | Article |
| Language: | English |
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SciELO
2023-09-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100305&tlng=en |
| _version_ | 1797673913138806784 |
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| author | Helio van der Linden Jr. Christiane Cobas Andre Felipe Pinto Duarte Marcelo Rodrigues Masruha |
| author_facet | Helio van der Linden Jr. Christiane Cobas Andre Felipe Pinto Duarte Marcelo Rodrigues Masruha |
| author_sort | Helio van der Linden Jr. |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T21:52:27Z |
| format | Article |
| id | doaj.art-481b7e1e589c4eda95904d804f2de20f |
| institution | Directory Open Access Journal |
| issn | 2326-4594 |
| language | English |
| last_indexed | 2024-03-11T21:52:27Z |
| publishDate | 2023-09-01 |
| publisher | SciELO |
| record_format | Article |
| series | Journal of Inborn Errors of Metabolism and Screening |
| spelling | doaj.art-481b7e1e589c4eda95904d804f2de20f2023-09-26T07:41:52ZengSciELOJournal of Inborn Errors of Metabolism and Screening2326-45942023-09-011110.1590/2326-4594-jiems-2023-0008Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) DeficiencyHelio van der Linden Jr.https://orcid.org/0000-0002-3123-2264Christiane CobasAndre Felipe Pinto DuarteMarcelo Rodrigues MasruhaAbstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100305&tlng=enAromatic L-amino acid decarboxylase deficiencyDDC geneOculogyric crisesOromandibular dystonia |
| spellingShingle | Helio van der Linden Jr. Christiane Cobas Andre Felipe Pinto Duarte Marcelo Rodrigues Masruha Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Journal of Inborn Errors of Metabolism and Screening Aromatic L-amino acid decarboxylase deficiency DDC gene Oculogyric crises Oromandibular dystonia |
| title | Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency |
| title_full | Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency |
| title_fullStr | Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency |
| title_full_unstemmed | Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency |
| title_short | Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency |
| title_sort | oromandibular dystonia is a prominent feature in patients with aromatic l amino acid decarboxylase aadc deficiency |
| topic | Aromatic L-amino acid decarboxylase deficiency DDC gene Oculogyric crises Oromandibular dystonia |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100305&tlng=en |
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