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episodic kinesigenic dyskinesia (EKD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

episodic kinesigenic dyskinesia

MONDO:0044202

Also known as:EKDfamilial PKDfamilial paroxysmal kinesigenic dyskinesia

Overview

Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

The 16p11.2 recurrent deletion is one of the most common known genetic causes of neurodevelopmental disorders . Common clinical features include motor speech disorder, language disorder, motor coordination difficulties, psychiatric conditions, and autistic features. Clinical follow-up data from adults suggest that the greatest medical challenges are obesity and related comorbidities that can be exacerbated by medications used to treat behavioral and psychiatric problems. Table 2. Select Features of the 16p11.2 Recurrent Deletion

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

The 16p11.2 recurrent deletion should be considered in individuals with the following clinical findings:

Motor speech disorder, especially childhood apraxia of speech
Language disorder
Learning difficulties/ intellectual disability

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for episodic kinesigenic dyskinesia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for the 16p11.2 recurrent deletion have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with the 16p11.2 recurrent deletion, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with the 16p11.2 Recurrent Deletion

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with the 16p11.2 Recurrent Deletion

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for episodic kinesigenic dyskinesia.

4 publications have been identified in PubMed for episodic kinesigenic dyskinesia. Research spans Epidemiology / Natural History (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Koyutourk B (2026). [PMID: 42065819](https://pubmed.ncbi.nlm.nih.gov/42065819/). *J Community Genet*. [Epidemiology / Natural History]
Yang Q (2026). [PMID: 41560868](https://pubmed.ncbi.nlm.nih.gov/41560868/). *Exp Ther Med*. [Case Report / Case Series]
Gogate A (2024). [PMID: 39632905](https://pubmed.ncbi.nlm.nih.gov/39632905/). *NPJ Genom Med*. [Epidemiology / Natural History]
Wang D (2024). [PMID: 39263125](https://pubmed.ncbi.nlm.nih.gov/39263125/). *Heliyon*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98809

GARD

Genetic and Rare Diseases Info Center

GARD:8721

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Feature	% of Personsw/Feature	Comment
Developmental delay	Most (if not all)	Degree varies significantly.
Psychiatric/behavioral issues	90%	50% have ≥1 psychiatric/behavioral diagnoses. Most report symptoms of behavioral conditions.
Motor speech disorders	80%	Incl apraxia, dysarthria; majority mild-to-moderate, some minimally verbal
Language disorder	80%-90%	Broadly impaired receptive, expressive, pragmatic domains
Obesity	75%	Onset in early adolescence through adulthood
Motor coordination difficulties	60%	—
Autistic features / autism	20%-25%	—
Seizures	25%	—
Vertebral anomalies	21%	May be assoc w/scoliosis
Hearing loss	11%	Both sensorineural conductive reported
Paroxysmal kinesigenic dyskinesia (PKD)	≤9%	Incl benign familial infantile seizures, PKD, PKD w/infantile convulsions
Cardiac malformations	6%	Most if not all individuals with the 16p11.2 recurrent deletion experience some degree of developmental delay, although the severity varies. Developmental coordination (motor) disorder is one of the most common diagnoses in individuals with the 16p11.

System/Concern	Evaluation	Comment
Constitutional	In those age 2 yrs: measure growth parameters calculate BMI.	To assess for obesity
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Psychiatric/
Behavioral	Neuropsychiatric eval	For those age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD
Neurologic	Neurologic eval incl assessment for movement disorders dystonia, for signs/symptoms of brain stem dysfunction1	To incl brain MRI w/particular assessment for posterior fossa /or craniocervical junction-related abnormalities2; Consider EEG if seizures are a concern.
Musculoskeletal	AP lateral spinal radiographs	To assess for vertebral anomalies/scoliosis Orthopedics/ physical medicine rehab/ PT OT eval
Endocrinologic	Consider obtaining fasting blood glucose hemoglobin A1c.	To screen for diabetes in those who are overweight
Hearing	Audiology eval	To assess for hearing loss
Cardiovascular	Auscultation for heart murmur	Consider echocardiography in those w/signs/symptoms suggestive of a congenital heart defect. Blood pressure
counseling	By genetics professionals3	To inform affected persons their families re nature, MOI, implications of the 16p11.2 recurrent deletion in order to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with the 16p11.2 Recurrent Deletion Manifestation/Concern	Treatment	Considerations/Other Obesity
Intellectual disability	See .	—
Psychiatric/Behavioral	Standard treatment per psychologist /or psychiatrist	See .
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers1 Paroxysmal
kinesigenic dyskinesia	Consideration of low doses of carbamazepine or phenytoin	—
Dystonia	Standard treatment per neurologist	May incl use of antiparkinsonian drugs
Chiari I malformation / Syringomyelia	Standard treatment per neurosurgeon	—
Scoliosis	Standard treatment per orthopedist	—
Type II diabetes	Standard treatment per endocrinologist	May incl use of an oral hypoglycemic medication in addition to healthy diet exercise Hearing

Kisho

episodic kinesigenic dyskinesia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

Paroxysmal kinesigenic dyskinesia: clinical report of 10 cases from three pedigrees with literature review.

Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.

episodic kinesigenic dyskinesia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

Paroxysmal kinesigenic dyskinesia: clinical report of 10 cases from three pedigrees with literature review.

Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.