Autosomal dominant focal dystonia, DYT7 type

General Information (adopted from Orphanet):

Synonyms, Signs: TORSION DYSTONIA, FOCAL ADULT-ONSET CERVICAL DYSTONIA, PRIMARY, INCLUDED
DYT7
Adult-onset idiopathic torsion dystonia
Adult-onset focal torsion dystonia
Number of Symptoms 10
OrphanetNr: 93963
OMIM Id: 602124
ICD-10: G24.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: autosomal dominant
Autosomal dominant inheritance
[Omim]
Age of onset: Adulthood
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Focal, segmental or multifocal dystonia
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000643) Blepharospasm 20 / 7739
2
 (HPO:0000473) Torticollis 42 / 7739
3
 (HPO:0001304) Torsion dystonia 13 / 7739
4
 (HPO:0002312) Clumsiness 28 / 7739
5
 (HPO:0001337) Tremor 200 / 7739
6
 (HPO:0012048) Oromandibular dystonia 7 / 7739
7
 (HPO:0001618) Dysphonia 28 / 7739
8
 (HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
9
 (OMIM) Postural hand tremor 1 / 7739
10
 (OMIM) Dystonic writer's cramp 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, ...
Clinical Description OMIM Patients with idiopathic focal dystonias present with symptoms affecting one body part, most frequently the neck (spasmodic torticollis), eyes (blepharospasm), or hands (writer's cramp). Focal dystonia rarely presents with symptoms in the lower limbs and rarely generalizes (Waddy ...