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GTR Home > Conditions/Phenotypes > Paroxysmal nonkinesigenic dyskinesia 1

Paroxysmal nonkinesigenic dyskinesia 1

Synonyms
Dystonia 8; Familial Paroxysmal Nonkinesigenic Dyskinesia; Familial paroxysmal choreoathetosis; Mount-Reback syndrome; Nonkinesigenic choreoathetosis; Paroxysmal dystonic choreoathetosis; PxMD-PNKD

Summary

Excerpted from the GeneReview: Familial Paroxysmal Nonkinesigenic Dyskinesia
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Roberto Erro
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Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR-1S, MR1, PDC, PKND1, PNKD1, R1, TAHCCP2, PNKD
    Summary: PNKD metallo-beta-lactamase domain containing

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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