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Paroxysmal choreoathetosis

MedGen UID:
343687
Concept ID:
C1851936
Finding
Synonyms: Choreoathetosis, episodic; Choreoathetosis, intermittent; Choreoathetosis, paroxysmal
SNOMED CT: Paroxysmal dyskinesia (49949003); Paroxysmal choreoathetosis (49949003)
 
HPO: HP:0007098

Definition

Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Paroxysmal choreoathetosis

Conditions with this feature

Striatonigral degeneration, infantile, mitochondrial
MedGen UID:
374113
Concept ID:
C1839022
Disease or Syndrome
Infantile convulsions and choreoathetosis
MedGen UID:
356123
Concept ID:
C1865926
Disease or Syndrome
PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.
Paroxysmal nonkinesigenic dyskinesia 1
MedGen UID:
1631383
Concept ID:
C4551506
Disease or Syndrome
Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are typically precipitated by coffee, tea, or alcohol; they can also be triggered by excitement, stress, or fatigue, or can be spontaneous. Attacks involve dystonic posturing with choreic and ballistic movements, may be accompanied by a preceding aura, occur while the individual is awake, and are not associated with seizures. Attacks last minutes to hours and rarely occur more than once per day. Attack frequency, duration, severity, and combinations of symptoms vary within and among families. Age of onset is typically in childhood or early teens but can be as late as age 50 years.
Episodic kinesigenic dyskinesia 1
MedGen UID:
1636366
Concept ID:
C4552000
Disease or Syndrome
PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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Diagnosis

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Therapy

Pery R, Gudmundsdottir H, Nagorney DM, Pencovich N, Smoot RL, Thiels CA, Truty MJ, Vierkant RA, Warner SG, Kendrick ML, Cleary SP
HPB (Oxford) 2023 Mar;25(3):339-346. Epub 2022 Dec 31 doi: 10.1016/j.hpb.2022.12.006. PMID: 36707278
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Prognosis

Javle M, Lee S, Azad NS, Borad MJ, Kate Kelley R, Sivaraman S, Teschemaker A, Chopra I, Janjan N, Parasuraman S, Bekaii-Saab TS
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Clinical prediction guides

Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X
BMC Neurol 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209. PMID: 24370076Free PMC Article
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J Med Genet 2013 Mar;50(3):133-9. Epub 2013 Jan 23 doi: 10.1136/jmedgenet-2012-101406. PMID: 23343561
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