Dystonia - complex
Gene: MECR
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected. 7 unrelated families reported.Created: 28 Apr 2021, 11:53 p.m. | Last Modified: 28 Apr 2021, 11:53 p.m.
Panel Version: 0.172
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003
Publications
PMID: 27817865 - 4/5 families w/ bilallelic variants reported w/ dystonia with variable features
PMID: 31137067 - 1 patient w/ chet missense/PTCs and dystonia with variable features
Sources: Expert ReviewCreated: 9 Apr 2020, 6:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Publications
Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#617282 to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003
Publications for gene: MECR were set to PMID: 27817865; 31137067
Gene: mecr has been classified as Green List (High Evidence).
Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#617282
Gene: mecr has been classified as Green List (High Evidence).
gene: MECR was added gene: MECR was added to Dystonia - complex. Sources: Expert Review Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MECR were set to PMID: 27817865; 31137067 Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities Review for gene: MECR was set to GREEN