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episodic kinesigenic dyskinesia 3
Description
Episodic Kinesigenic Dyskinesia 3 (EKD3)
Episodic Kinesigenic Dyskinesia 3 (EKD3) is an autosomal dominant form of paroxysmal kinesigenic dyskinesia (PKD), a rare episodic involuntary movement disorder. This condition is characterized by dystonia, chorea, athetosis, and other hyperkinetic movements.
Key Features:
- Autosomal Dominant Inheritance: EKD3 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.
- Episodic Nature: The symptoms of EKD3 are episodic, meaning they come and go over time. This can make diagnosis challenging.
- Hyperkinetic Movements: The primary symptom of EKD3 is hyperkinetic movements, which include dystonia (abnormal postures), chorea (involuntary dance-like movements), athetosis (slow, writhing movements), and other similar symptoms.
Genetic Heterogeneity
EKD3 is caused by mutations in the PRRT2 gene. This gene plays a crucial role in regulating synaptic transmission, which can lead to various neurological disorders when mutated.
References:
- [4] Episodic kinesigenic dyskinesia-3 (EKD3) is an autosomal dominant form of paroxysmal kinesigenic dyskinesia (PKD), an episodic involuntary movement disorder characterized by dystonia, chorea, athetosis, and other hyperkinetic movements.
- [5] An abnormally increased muscular tone that causes fixed abnormal postures, which is a key feature of EKD3.
Note: The information provided is based on the search results within the context. If you need further clarification or details, please let me know!
Additional Characteristics
- Episodic Kinesigenic Dyskinesia 3 (EKD3) is an autosomal dominant form of paroxysmal kinesigenic dyskinesia (PKD), a rare episodic involuntary movement disorder.
- The primary symptom of EKD3 is hyperkinetic movements, which include dystonia, chorea, athetosis, and other similar symptoms.
- EKD3 is caused by mutations in the PRRT2 gene, which plays a crucial role in regulating synaptic transmission.
- An abnormally increased muscular tone that causes fixed abnormal postures, which is a key feature of EKD3.
Signs and Symptoms
Based on the search results, here are the signs and symptoms of Episodic Kinesigenic Dyskinesia (EKD):
Common Symptoms
- Abnormal movements: EKD is characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis [6].
- Muscle contractions: The condition may involve slow, prolonged muscle contractions (dystonia) [1].
- Small, fast motions: Small, fast, "dance-like" motions (chorea) are also a common symptom [1].
Other Symptoms
- Episodic ataxias and tremors: Episodic ataxias and tremors are also part of the paroxysmal dyskinesia spectrum [3].
- Vestibular signs and symptoms: Vestibular signs and symptoms may be present in some cases [3].
Triggers
- Quick movements or startling: Symptoms most commonly occur when a patient stands up quickly or is startled [4].
These symptoms are typically episodic, meaning they come and go over time. The condition can have a significant impact on daily life, but with proper diagnosis and treatment, it is possible to manage the symptoms effectively.
References: [1] - Context result 1 [3] - Context result 3 [4] - Context result 4 [6] - Context result 6
Additional Symptoms
- Abnormal movements
- Muscle contractions
- Small, fast motions
- Episodic ataxias and tremors
- Vestibular signs and symptoms
Diagnostic Tests
Based on the provided context, here are some diagnostic tests for Episodic Kinesigenic Dyskinesia (EKD):
- Sequence analysis of the entire coding region: This test can detect sequence variants in the PRRT2 gene, which is associated with EKD. [1]
- Deletion/duplication analysis: This test can identify deletions or duplications in the PRRT2 gene that may be causing the condition. [20]
- Targeted variant analysis: This test can specifically look for variants in the PRRT2 gene that are known to cause EKD. [3]
It's worth noting that these tests are not only relevant to EKD but also to Paroxysmal Kinesigenic Dyskinesia (PKD), which is a related condition.
Additionally, PRRT2 diagnostic testing is recommended to identify a potential genetic basis for the condition, which can inform prognosis and treatment. [8]
These tests are typically used in conjunction with clinical evaluation and other diagnostic criteria to confirm the diagnosis of EKD or PKD.
Additional Diagnostic Tests
- Sequence analysis of the entire coding region
- Targeted variant analysis
- duplication analysis
Treatment
Treatment Options for Episodic Kinesigenic Dyskinesia
Episodic kinesigenic dyskinesia (EKD) is a rare neurological disorder characterized by sudden, involuntary movements triggered by voluntary movement. While there is no cure for EKD, various treatment options can help manage the symptoms and reduce their frequency.
Medications Used to Treat EKD
Several medications have been found to be effective in treating EKD:
- Anticonvulsants: These are a mainstay of treatment for EKD. Medications such as carbamazepine, phenytoin, valproate, carbamazepine, and diazepam have been shown to reduce the frequency and severity of attacks.
- Other medications: In addition to anticonvulsants, other drugs like levodopa, flunarizine, and tetrabenazine may also be helpful in managing EKD symptoms.
Specific Medications for EKD
Some specific medications that have been found to be effective in treating EKD include:
- Carbamazepine: This anticonvulsant medication is often used as a first-line treatment for EKD. It has been shown to reduce the frequency and severity of attacks.
- Phenytoin: Another anticonvulsant medication, phenytoin has also been found to be effective in treating EKD.
References
- [3] Oral medications are often a mainstay of treatment. People with paroxysmal kinesigenic dyskinesia (PKD) generally respond well to anticonvulsant agents such as phenytoin, primidone, valporate, carbamazepine, phenobarbital, and diazepam.
- [4] by M Hull · 2020 · Cited by 1 — Paroxysmal kinesigenic dyskinesia (PKD) has classically been treated with carbamazepine and phenytoin in children and adults.
- [7] Carbamazepine, an antiepileptic, is also very effective in treating EKD symptoms.
Recommended Medications
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Differential Diagnosis
Episodic Kinesigenic Dyskinesia (EKD) Differential Diagnosis
Episodic kinesigenic dyskinesia (EKD), also known as paroxysmal kinesigenic dyskinesia (PKD), is a rare movement disorder characterized by episodes of abnormal movement. When diagnosing EKD, it's essential to consider other conditions that may present with similar symptoms.
Conditions to Consider in the Differential Diagnosis:
- Psychogenic Movement Disorders: These disorders can also be paroxysmal and abrupt in onset, making them a consideration in the differential diagnosis of EKD.
- Dystonia: A neurological disorder characterized by involuntary muscle contractions, which may present with similar symptoms to EKD.
- Migraine: Some patients with EKD may experience migraine headaches, which can be a confounding factor in diagnosis.
- Epilepsy: Seizure disorders can sometimes manifest as abnormal movements, making epilepsy a consideration in the differential diagnosis of EKD.
Key Diagnostic Features:
- Absence of organic disease or structural abnormality on neuroimaging
- Response to anticonvulsant medications [5]
- Presence of episodic kinesigenic dyskinesia symptoms, such as clumsiness, gait disturbances, oculogyric crises, and weakness [6]
Important Considerations:
- The diagnosis of EKD is confirmed by the absence of organic disease or structural abnormality on neuroimaging and the response to anticonvulsant medications.
- Additional features observed in some cases include migraine, clumsiness, gait disturbances, oculogyric crises, and weakness.
References:
[3] Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. [4] [5] The diagnosis of PKD is confirmed by the absence of organic disease or structural abnormality on neuroimaging and the response to anticonvulsant medications... [6] Additional features observed in 10% of cases include migraine, clumsiness, gait disturbances, oculogyric crises and weakness. About 5% are precipitated by ...
Additional Differential Diagnoses
- Psychogenic Movement Disorders
- dystonia 5
- epilepsy
- migraine
Additional Information
- owl#annotatedSource
- t345751
- oboInOwl#hasOBONamespace
- disease_ontology
- IAO_0000115
- A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13.
- oboInOwl#id
- DOID:0060944
- core#notation
- DOID:0060944
- rdf-schema#label
- episodic kinesigenic dyskinesia 3
- oboInOwl#hasDbXref
- MIM:620245
- rdf-schema#subClassOf
- t345201
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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