| Demographic Data |
| Relation to Proband |
No Data |
| Age at Sampling |
66 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
54 YR |
| Age at Diagnosis(If not a control) |
62 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| Diagnosed By |
No Data |
| |
| Data Elements |
| Clinical Element Type: Dystonia |
| (Baseline) |
| Other Race info |
| Additional Race Information |
No Data |
| Medical History |
| Primary Dystonia type |
Focal Dystonia |
| Hemi Dystonia |
No Data |
| Focal Dystonia |
Limb Dystonia - Lower Extremity Dystonia |
| Segmental Dystonia |
No Data |
| Other dystonia syndrome |
No |
| Please Specify |
No Data |
| Non-dystonia syndrome |
No Data
Notes: Laryngeal tremor |
| Please Specify |
No Data |
| Documented causal Gene |
yes |
| Documented Gene |
TOR1A (DYT1)
TAF1 (DYT3)
GCH1 (DYT5A, DYT14)
TH (DYT5B)
THAP1 (DYT6)
PNKD (DYT8)
SGCE (DYT11)
ATP1A3 (DYT12)
PRKRA (DYT16)
SLC2A1 (DYT18)
Other Gene
Notes: THAP1: C.446T
|
| Other Gene mutation present |
THAP1: C.446T |
| Initial Areas of Onset |
| Onset at Foot |
no |
| Foot affected |
Left
Right
|
| Onset at Hand |
no |
| Hand affected |
Left
Right
|
| Onset at Jaw |
no |
| Onset at Larynx |
no |
| Onset at lower Face |
no |
| Lower Face affected |
Left
Right
|
| Onset at Neck |
no |
| Onset at Pelvis |
no |
| Onset at Shoulder |
no |
| Shoulder affected |
Left
Right
|
| Onset at Tongue |
no |
| Onset at Trunk |
no |
| Onset at upper Arm |
no |
| Upper Arm affected |
Left
Right
|
| Onset at upper Face |
no |
| Upper Face affected |
Left
Right
|
| Onset at upper Leg |
yes |
| Upper Leg affected |
Left
Right
|
| Onset task specific |
No Data |
| Tasks |
Sports Related Cramp
Writers Cramp
Typists Cramp
Musicians Cramp
Speech related dystonia (spasmodic dysphonia)
Other Cramp
|
| Other tasks(Specify) |
No Data |
| Dystonia had abrupt onset (less than 1 week)
|
no |
| Dystonia was fixed at onset |
unknown |
| Psychiatric disorder present |
no |
| Type of Psychiatric disorder |
Depression
Anxiety related disorders
Other Psychiatric conditions
|
| Other types of Psychiatric disorders present |
No Data |
| Sites Currently Affected |
| Foot Dystonia present |
yes |
| Foot affected |
Left
Right
|
| Hand Dystonia present |
yes |
| Hand affected |
Left
Right
|
| Jaw Dystonia present |
no |
| Larynx Dystonia present |
no |
| Lower Face Dystonia present |
no |
| Lower Face affected |
Left
Right
|
| Neck Dystonia present |
yes |
| Pelvic Dystonia Present |
yes |
| Shoulder Dystonia Present |
yes |
| Shoulder affected |
Left
Right
|
| Tongue Dystonia present |
no |
| Trunk Dystonia present |
no |
| Upper Arm Dystonia present |
yes |
| Upper Arm affected |
Left
Right
|
| Upper Face Dystonia present |
No Data |
| Upper Face affected |
Left
Right
|
| Upper Leg Dystonia present |
yes |
| Upper Leg affected |
Left
Right
|
| Foot tremor |
no |
| Foot tremor type |
No Data |
| Hand tremor present |
yes |
| Hand tremor type |
Regular |
| Jaw tremor present |
no |
| Jaw tremor type |
No Data |
| Lower Face Tremor |
no |
| Lower Face tremor type |
No Data |
| Neck tremor present |
no |
| Neck tremor type |
No Data |
| Pelvis tremor present |
no |
| Pelvis tremor type |
No Data |
| Shoulder tremor present |
no |
| Shoulder tremor type |
No Data |
| Tongue tremor |
no |
| Tongue tremor type |
No Data |
| Trunk tremor present |
no |
| Trunk tremor type |
No Data |
| Upper Arm tremor present |
no |
| Upper Arm tremor type |
No Data |
| Upper Face tremor present |
no |
| Upper Face tremor type |
No Data |
| Upper Leg tremor present |
yes |
| Upper Leg tremor type |
Regular |
| Examination |
| Abductor |
no |
| Adductor |
no |
| Muscular tension Dysphonia |
yes |
| Atypical Dysphonia |
no |
| Laryngeal tremor |
no |
| Confirmed by nasopharyngeoscopy |
no |
| Tremor preceded Dystonia on onset |
no |
| Myoclonus |
no |
| Parkinsonism |
no |
| Family History |
| Family history of Dystonia |
yes |
| Father Affected? |
Affected |
| Mother Affected? |
Unaffected |
| Sisters unknown |
0 |
| Sisters unaffected |
0 |
| Sisters affected |
1 |
| Brothers unknown |
0 |
| Brothers unaffected |
0 |
| Brothers affected |
0 |
| Daughters unknown |
0 |
| Daughters unaffected
|
1 |
| Daughters affected |
0 |
| Sons unknown |
0 |
| Sons unaffected |
1 |
| Sons affected |
0 |
| Documented causal Gene |
yes |
| Documented Gene |
TOR1A (DYT1)
TAF1 (DYT3)
GCH1 (DYT5A, DYT14)
TH (DYT5B)
THAP1 (DYT6)
PNKD (DYT8)
SGCE (DYT11)
ATP1A3 (DYT12)
PRKRA (DYT16)
SLC2A1 (DYT18)
OtherGene
Notes: THAP1 |
| Other Gene Mutation present |
THAP1, SISTER CARRIES THE GENE, FATHER IS UNKNOWN |
| Family consanguinity |
unknown |
| Family pedigree |
available |
| Family Member(s) with Tremor |
yes |
| Family Member(s) with Myoclonus |
yes |
| Family Member(s) with Parkinson disease or Parkinsonism |
no |
| Family Member(s) with Other disorder(s) |
no |
| Other disorders(if yes Specify) |
No Data |