Disorder "Early-onset generalized limb-onset dystonia"
Found 1 record
Disorder information
Disorder name:
Early-onset generalized limb-onset dystonia
Disoder ID:
OMIM entry:
Synonyms:
Idiopathic dystonia, Early-onset primary dystonia, early-onset primary dystonia, Oppenheim dystonia, Dystonia musculorum deformans, DYT-TOR1A, Idiopathic torsion dystonia, dystonia musculorum deformans, idiopathic torsion dystonia, DYT1, early-onset generalized limb-onset dystonia, torsion dystonia type 1, Early-onset torsion dystonia, idiopathic dystonia, early-onset torsion dystonia, EOTD, early-onset generalized torsion dystonia, Early-onset generalized torsion dystonia
Definition:
A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TOR1A | TOR1A:rs1801968 | Expressivity | Risk factor | P=0.001 | Modify Torsion dystonia phenotypemore | more |
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