Adult onset movement disorderGene: DDC
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Disorder includes dystonia as a feature. Presentation is most commonly in infancy, but there are patients who present as adolescents/young adults.
Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Aromatic L-amino acid decarboxylase deficiency, 608643
Mode of inheritance for gene: DDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ddc has been classified as Amber List (Moderate Evidence).
Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 for gene: DDC Publications for gene DDC were changed from to 19172410
Source NHS GMS was added to DDC.
Source South West GLH was added to DDC.
gene: DDC was added gene: DDC was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: DDC was set to Phenotypes for gene: DDC were set to Dystonia