Details of Disease

General Information of Disease (ID: DISDY57E)

Disease Name Early-onset generalized limb-onset dystonia
Synonyms
torsion dystonia 1, autosomal dominant; Early-onset torsion dystonia; idiopathic dystonia DYT1; dystonia 1; dystonia musculorum deformans 1; Early-onset Primary dystonia; idiopathic torsion dystonia; dystonia 1, torsion, Autosomal dominant; DYT-TOR1A dystonia; torsion dystonia 1; Dyt1; dystonia 1, torsion, autosomal dominant; Primary torsion dystonia; dystonia musculorum deformans; DYT-TOR1A; DYT1; early-onset generalized torsion dystonia; early-onset generalized limb-onset dystonia; Oppenheim's dystonia; early onset torsion dystonia; EOTD; early-onset generalised torsion dystonia; early-onset torsion dystonia; idiopathic dystonia; Oppenheim dystonia; torsion dystonia type 1; early-onset primary dystonia; dystonia-1, torsion; early onset primary dystonia
Definition A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.
Disease Hierarchy
DISGKJFA: Early-onset generalized dystonia
DISDY57E: Early-onset generalized limb-onset dystonia
Disease Identifiers
MONDO ID
MONDO_0007492
UMLS CUI
C1851945
OMIM ID
128100
MedGen ID
338823
Orphanet ID
256

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EIF2AK2 TTXEZJ4 Supportive Autosomal dominant [1]
TOR1A TTF85KW Definitive Autosomal dominant [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EIF2AK2 OT8DXMS3 Supportive Autosomal dominant [1]
THAP1 OTIWUSON moderate Biomarker [3]
TOR1A OTYCLGJU Definitive Autosomal dominant [2]
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References

1 EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15.
2 De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet. 1998 Jul;7(7):1133-6. doi: 10.1093/hmg/7.7.1133.
3 Inherited isolated dystonia: clinical genetics and gene function.Neurotherapeutics. 2014 Oct;11(4):807-16. doi: 10.1007/s13311-014-0297-7.