ND43014

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

White

Subject Type

family with at least 3 members, including 1 proband, not a trio

Family Type

NUCLEAR FAMILIES - ONE AFFECTED

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family Member

Family History

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

13 YR

Gender

Female

Age of Onset(If not a control)

9 YR

Age at Diagnosis(If not a control)

11 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

Generalized Dystonia

Hemi Dystonia

No Data

Focal Dystonia

No Data

Segmental Dystonia

No Data

Other dystonia syndrome

Please Specify

No Data

Non-dystonia syndrome

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

Other Gene mutation present

No Data

Initial Areas of Onset

Onset at Foot

yes

Foot affected

Left
Right

Onset at Hand

Hand affected

Left
Right

Onset at Jaw

Onset at Larynx

Onset at lower Face

Lower Face affected

Left
Right

Onset at Neck

Onset at Pelvis

Onset at Shoulder

Shoulder affected

Left
Right

Onset at Tongue

Onset at Trunk

Onset at upper Arm

Upper Arm affected

Left
Right

Onset at upper Face

Upper Face affected

Left
Right

Onset at upper Leg

Upper Leg affected

Left
Right

Onset task specific

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)

Dystonia was fixed at onset

Psychiatric disorder present

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

Notes: SYMPTOMS WERE GENERALIZED, BUT TREATMENT RESOLVED MOST SYMPTOMS

Hand Dystonia present

Hand affected

Left
Right

Jaw Dystonia present

Larynx Dystonia present

Lower Face Dystonia present

Lower Face affected

Left
Right

Neck Dystonia present

Pelvic Dystonia Present

Shoulder Dystonia Present

Shoulder affected

Left
Right

Tongue Dystonia present

Trunk Dystonia present

Upper Arm Dystonia present

Upper Arm affected

Left
Right

Upper Face Dystonia present

Upper Face affected

Left
Right

Upper Leg Dystonia present

Upper Leg affected

Left
Right

Foot tremor

Foot tremor type

No Data

Hand tremor present

Hand tremor type

No Data

Jaw tremor present

Jaw tremor type

No Data

Lower Face Tremor

Lower Face tremor type

No Data

Neck tremor present

Neck tremor type

No Data

Pelvis tremor present

Pelvis tremor type

No Data

Shoulder tremor present

Shoulder tremor type

No Data

Tongue tremor

Tongue tremor type

No Data

Trunk tremor present

Trunk tremor type

No Data

Upper Arm tremor present

Upper Arm tremor type

No Data

Upper Face tremor present

Upper Face tremor type

No Data

Upper Leg tremor present

Upper Leg tremor type

No Data

Examination

Abductor

Adductor

Muscular tension Dysphonia

Atypical Dysphonia

Laryngeal tremor

Confirmed by nasopharyngeoscopy

Tremor preceded Dystonia on onset

Myoclonus

Parkinsonism

Family History

Family history of Dystonia

Father Affected?

Unknown

Mother Affected?

Unaffected

Sisters unknown

Sisters unaffected

1 - NO SYMPTOMS ON EXAM

Sisters affected

Brothers unknown

Brothers unaffected

Brothers affected

Daughters unknown

Daughters unaffected

Daughters affected

Sons unknown

Sons unaffected

Sons affected

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: PROBAND AND FATHER ARE KNOWN DYT1 POSITIVE

Other Gene Mutation present

No Data

Family consanguinity

Family pedigree

available

Family Member(s) with Tremor

Family Member(s) with Myoclonus

Family Member(s) with Parkinson disease or Parkinsonism

Family Member(s) with Other disorder(s)

yes

Other disorders(if yes Specify)

PATERNAL GRANDMOTHER DIED OF SUICIDE AT AGE 51, PATERNAL GREAT-UNCLE WITH "TIC" AND "WALKS LIKE AN OLD MAN" BUT WHO RUNS MARATHONS

Culture Protocols

Supplement

Description:

GENERALIZED DYSTONIA

Affected:

Yes

Gender:

Female

Age:

13 YR (At Sampling)

Overview

Phenotypic Data

Culture Protocols