Dystonia, Myotonia and Paroxysmal Dyskinesia

Szintén szereplő specifikus formák

• Dystonia 5

  An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.

  GCH1

• Dystonia 21

  Autoszomális domináns

  Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.

• Dystonia 16

  Autoszomális recesszív

  Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

  PRKRA

• Dystonia 25

  Autoszomális domináns

  Autosomal dominant focal dystonia, DYT25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.

  GNAL

• Dystonia 23

  Autoszomális domináns

  Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.

• Dystonia 27

  Autoszomális recesszív

  Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.

  COL6A3

• Dystonia 24

  Autoszomális domináns

  Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.

  ANO3

• Dystonia 30

  Autoszomális domináns

  VPS16

• Dystonia 31

  Autoszomális recesszív

• Dystonia 32

  Autoszomális recesszív

• Dystonia 33

  Autoszomális domináns

• Paroxysmal Dyskinesia

  Autoszomális domináns

  Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).

  KCNJ10, PNKD, PRRT2, SLC2A1, TMEM151A

Szintén szereplő specifikus formák

• Myotonia Fluctuans

  Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.

• Myotonia Permanens

  Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).

Szintén szereplő specifikus formák

• Dystonia 12

  Autoszomális domináns

  Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

  ATP1A3