Dystonia - complex

Gene: MECR

Green List (high evidence)

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

• 27817865
• 33401012
• 31137067
• 31070877

Green List (high evidence)

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 Review

Created: 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

• PMID: 27817865
• 31137067