|
Gene
|
Location
|
Designation
|
Mode of Inheritance
|
|
|
DYT-1 (TOR1A)
|
9q34
|
Early Onset Primary Dystonia
|
Autosomal Dominant
|
|
Early-onset, Starts in a
limb in most cases, and spreads to other body parts
|
|
|
DYT-2
|
Reserved
|
Autosomal Recessive Primary
|
Autosomal Recessive
|
|
Early-onset, generalised or
segmental primary torsion dystonia
|
|
|
DYT-3 TAF1
|
Xq13.1
|
X-Linked Dyst-Parkinsonism: "Lubag"
|
X-Linked
|
|
Segmental or generalised
dystonia with concurrent or subsequent parkinsonism in about 50% of cases
|
|
|
DYT-4
|
Reserved
|
"Non-DYT1" Primary
|
Autosomal Dominant
|
|
Whispering Dysphonia Reported in one large Australian family
|
|
|
DYT-5
A (GCH1) B (TH)
|
14q22.1-q22.2
|
Dopa Responsive Dystonia;
Segawa Syndrome
|
A is Autosomal Dominant / B is recessive
|
|
Dystonia with concurrent or
subsequent parkinsonism, diurnal worsening of symptoms, dramatic response to levodopa
|
|
|
DYT-6 THAP1
|
8p11.21
|
Adolescent Onset Primary;
Mixed Type
|
Autosomal Dominant
|
|
Adolescent onset, mostly
segmental, rarely generalizes
|
|
|
DYT-7
|
18pter-p11.32
|
Adult Onset Focal Primary
|
Autosomal Dominant
|
|
Adult onset of focal
dystonia (cervical dystonia, writers cramp, dysphonia, or blepharospasm)
|
|
|
DYT-8 (PNKD)
|
2q34
|
Paroxysmal Nonkinesogenic Dyskinesia
|
Autosomal Dominant
|
|
Attacks of dystonia
precipitated by stress, fatigue, alcohol, and chocolate
|
|
|
DYT-9 (CSE)
|
1p34-p22
|
Paroxysmal Choreoathetosis
with Spasticity
|
Autosomal Dominant
|
|
Attacks of dystonia,
episodic ataxia, and parasthesias, double vision, precipitated by exercise, stress, and chocolate; spastic paraplegia between attacks
|
|
|
DYT-10
|
16p11.2-q12.1
|
Paroxysmal Kinesogenic Dyskinesias
|
Autosomal Dominant
|
|
Attacks of dystonia brought
on by sudden movements
EKD1, "paroxysmal kinesigenic choreoathetosis", PKC
|
|
|
DYT-11 SGCE
|
7q21.3
|
Myoclonus Dystonia
|
Autosomal Dominant
|
|
Rapid, jerk like movements,
response to alcohol combined with variable degrees of dystonia
|
|
|
DYT-12 ATP1A3
|
19q13
|
Rapid Onset Dystonia-Parkinsonism
|
Autosomal Dominant
|
|
Acute or subacute onset of
dystonia in combination with parkinsonism
|
|
|
DYT-13
|
1p36.32-p36.12.13
|
Early and Late Onset Focal or Onset in
Cranial-Cervical
|
Autosomal Dominant
|
|
Focal or segmental dystonia,
segmental region in upper limbs; mild course
|
|
|
DYT-14
|
14q13
|
Dopa Responsive generalized dystonia
|
Autosomal Dominant
|
Early onset, leading to gait and postural abnormalities with
generalized dystonia and parkinsonism and at autopsy, severe depigmentation (hypomelanization) of the large neurons of the substantia nigra and the locus ceruleus
|
|
DYT-15
|
18p11
|
dystonia 15, myoclonic
|
Autosomal Dominant
|
Tremor or rapid jerky movements resembling myoclonus starting
in the first or second decade incomplete penetrance and variable response to alcohol
|
|
DYT-16 PRKRA
|
2q31.2
|
dystonia parkinsonism syndrome
|
Autosomal Recessive
|
Progressive, generalised, early-onset dystonia with axial
muscle involvement, oromandibular (sardonic smile), laryngeal dystonia and, in some cases, parkinsonian features (Camargos 2008)
|
|
DYT-17
|
20p11.22-q13.12
|
Primary focal torsion dystonia
|
Autosomal Recessive
|
Found using a genomewide search in a large
consanguineous Lebanese family with three affected individuals
|
|
DYT-18 SLC2A1
|
1p34.2
|
paroxysmal exertion-induced dyskinesia or paroxysmal
exertion-induced dystonia
|
Autosomal Dominant
|
Episodic movement disorders, that may involve disrupted ion
homeostasis due to defects in cell-surface channels or nutrient transporters in any cases, accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with
echinocytosis, and altered erythrocyte ion concentrations
|
|
DYT-19
|
|
Might Exist
|
Autosomal Dominant
|
|
|
DYT-20
|
2q31
|
paroxysmal nonkinesigenic dyskinesia 2
|
Autosomal Dominant
|
Characterized by attacks of involuntary movements, occurring
spontaneously at rest, precipitated by caffeine, alcohol, stress, lasting from minutes to hours and occurring several times each day
|
|
DYT-21
|
2q14.3-q21.3
|
Uncategorized
|
Autosomal Dominant
|
|
