Childhood onset dystonia, chorea or related movement disorder

Gene: DDC

Green List (high evidence)

Dystonia has been reported as one of the key symptoms in patients with aromatic L-amino acid decarboxylase deficiency (AADCD) (63/117 patients, 54%, Wassenberg et al. 2017). Although it was not possible to describe the precise age of onset and duration for every symptom, the best available data suggest an early onset of dystonia (Wassenberg et al. 2017). In children with dystonia (and other symptoms like hypotonia), other movement disorders (especially oculogyric crisis), developmental delay, and autonomic symptoms, AADCD should be considered. So far in 123 known patients 79 disease-causing variants in the DDC gene have been described and listed in the locus specific database PNDdb (http://biopku.org/home/pnddb.asp) (Himmelreich, 2019).

Created: 25 Feb 2020, 1:12 p.m. | Last Modified: 25 Feb 2020, 1:12 p.m.

Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis

Publications

• 28100251
• 30952622

Green List (high evidence)