Primary Dystonias - Inherited Forms

 

Gene

Designation

 Mode of Inheritance

Clinical Characteristics

DYT-1   (TOR1A)

Early Onset Primary Dystonia

Autosomal Dominant

Early-onset, Starts in a limb in most cases, and spreads to other body parts

DYT-2

Autosomal Recessive Primary

Autosomal Recessive

Early-onset, generalised or segmental primary torsion dystonia

DYT-3

X-Linked Dyst-Parkinsonism: "Lubag"

X-Linked

Segmental or generalised dystonia with concurrent or subsequent parkinsonism in about 50% of cases

DYT-4

"Non-DYT1" Primary

Autosomal Dominant

Whispering Dysphonia

DYT-5   (GCH1)

   Dopa Responsive Dystonia;    Segawa Syndrome

Autosomal Dominant

Dystonia with concurrent or subsequent parkinsonism, diurnal worsening of symptoms, dramatic response to levodopa

DYT-6

  Adolescent Onset Primary;      Mixed Type

Autosomal Dominant

Adolescent onset, mostly segmental, rarely generalizes

DYT-7

Adult Onset Focal Primary

Autosomal Dominant

Adult onset of focal dystonia (cervical dystonia, writers cramp, dysphonia, or blepharospasm

  DYT-8   (PNKD)

Paroxysmal Nonkinesogenic Dyskinesia

Autosomal Dominant

Attacks of dystonia precipitated by stress, fatigue, alcohol, and chocolate

   DYT-9    (CSE)

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

Paroxysmal Kinesogenic Dyskinesias

Autosomal Dominant

Attacks of dystonia brought on by sudden movements

DYT-11

Myoclonus Dystonia

Autosomal Dominant

Rapid, jerk like movements, response to alcohol combined with variable degrees of dystonia

DYT-12

Rapid Onset Dystonia-Parkinsonism

Autosomal Dominant

Acute or subacute onset of dystonia in combination with parkinsonism

DYT-13

Early and Late Onset Focal or Onset in Cranial-Cervical

Autosomal Dominant

Focal or segmental dystonia, segmental region in upper limbs; mild course