Episodic kinesigenic dyskinesia 1
- Synonyms
- Dystonia 10; Familial Paroxysmal Kinesigenic Dyskinesia; Paroxysmal kinesigenic choreoathetosis; PxMD-PRRT2
Summary
Excerpted from the GeneReview:PRRT2-related disorder, caused by heterozygous pathogenic variants in the gene PRRT2 (associated with aberrant synaptic transmission), is characterized by three core episodic neurologic phenotypes: epilepsy, movement disorder, and migraine. Age at onset and phenotypes range from neonatal/infantile (self-limited [familial] infantile epilepsy), to childhood (childhood absence epilepsy), to adolescence to adulthood (paroxysmal kinesigenic dyskinesia [PKD] or migraine). As individuals with PRRT2-related disorder age, they may exhibit one of more of these core phenotypes in various combinations, either concurrently or sequentially. Additionally, family members with the same pathogenic PRRT2 variant may display different core phenotypes.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Kathryn Yang
- Vincente Quiroz
- Darius Ebrahimi-Fakhari
- view full author information
Available tests
50 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (50 available)
Clinical features
Help- Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Orofacial dyskinesia
Orofacial dyskinesia
- MedGen UID: 57747
- Concept ID: C0152115
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Paroxysmal choreoathetosis
Paroxysmal choreoathetosis
- MedGen UID: 343687
- Concept ID: C1851936
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Paroxysmal dystonia
Paroxysmal dystonia
- MedGen UID: 97951
- Concept ID: C0393588
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Infantile spasms
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