Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Aromatic L-Amino acid decarboxylase (AADC) deficiency is a rare neurometabolic disorder due to homozygous or compound heterozygous pathogenic variant of the DDC gene, resulting in low synthesis biogenic amines dopamine, serotonin, epinephrine, and norepinephrine. Most patients had severe expression disease with global developmental delay, early hypotonia, movement disorders such as oculogyric crises, tremor, dystonia. Oromandibular dystonia (OMD) rarely recognized AADC deficiency. The aim this study was describe OMD detail 4 occurred isolated form association increasing difficulty care during crises. main tongue associated mouth opening must be included list genetic causes OMD.