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ND44216
DNA
from
Whole Blood
Description:
SEGMENTAL DYSTONIA
Affected:
Yes
Gender:
Female
Age:
23
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
Overview
Repository
NINDS Repository
Subcollection
Dystonia
Quantity
3 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Sample Source
DNA from Whole Blood
Race
Other
Subject Type
family pair other than sibs or parent-child
Family Type
MULTIGENERATIONAL FAMILIES - ONE AFFECTED
Ethnicity
Not Hispanic/Latino
Ethnicity
Pakistani
Country of Origin
PAKISTAN
Family Member
1
Family History
N
Relation to Proband
proband
Species
Homo
sapiens
Common Name
Human
Note
This material represents a finite resource (DNA from Whole Blood)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
23 YR
Gender
Female
Age of Onset(If not a control)
9 YR
Age at Diagnosis(If not a control)
10 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
Other
Country
PAKISTAN
Diagnosed By
No Data
Data Elements
Clinical Element Type: Dystonia
(Baseline)
Other Race info
Additional Race Information
No Data
Medical History
Primary Dystonia type
Segmental Dystonia
Hemi Dystonia
No Data
Focal Dystonia
No Data
Segmental Dystonia
Laryngeal-Cervical-Limb
Other dystonia syndrome
No
Please Specify
No Data
Non-dystonia syndrome
No
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:
HOMOZYGOUS DYT6 MUTATION
Other Gene mutation present
No Data
Initial Areas of Onset
Onset at Foot
yes
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
no
Upper Leg affected
Left
Right
Onset task specific
no
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)
unknown
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
no
Foot affected
Left
Right
Hand Dystonia present
yes
Hand affected
Left
Right
Jaw Dystonia present
yes
Larynx Dystonia present
yes
Lower Face Dystonia present
no
Lower Face affected
Left
Right
Neck Dystonia present
yes
Pelvic Dystonia Present
no
Shoulder Dystonia Present
no
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
Upper Face affected
Left
Right
Upper Leg Dystonia present
no
Upper Leg affected
Left
Right
Foot tremor
no
Foot tremor type
No Data
Hand tremor present
no
Hand tremor type
No Data
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
no
Upper Leg tremor type
No Data
Examination
Abductor
no
Adductor
yes
Muscular tension Dysphonia
no
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?
Unaffected
Mother Affected?
Unaffected
Sisters unknown
0
Sisters unaffected
1
Sisters affected
1
Brothers unknown
0
Brothers unaffected
1
Brothers affected
0
Daughters unknown
0
Daughters unaffected
0
Daughters affected
0
Sons unknown
0
Sons unaffected
0
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
Other Gene Mutation present
No Data
Family consanguinity
yes
Family pedigree
available
Family Member(s) with Tremor
no
Family Member(s) with Myoclonus
no
Family Member(s) with Parkinson disease or Parkinsonism
no
Family Member(s) with Other disorder(s)
unknown
Other disorders(if yes Specify)
No Data
Culture Protocols
Supplement
-
Pricing
Commercial and Non-U.S.:
$0.00
USD
U.S. Academic or
Non-profit:
$0.00
USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00
USD
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Statement of Research Intent Form
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