episodic kinesigenic dyskinesia 2

Episodic kinesigenic dyskinesia 2 (EKD2) is a rare genetic disorder characterized by recurrent and brief episodes of involuntary movement triggered by sudden voluntary movement [1]. It is an autosomal dominant condition, meaning that only one copy of the mutated gene is needed to develop the condition [5].

The symptoms of EKD2 typically begin in childhood or adolescence and can range from mild to severe [6]. The episodes of dyskinesia are usually brief, lasting from a few seconds to several minutes, and can be triggered by various activities such as walking, running, or even thinking about movement [4].

EKD2 is caused by mutations in the gene that maps to chromosome 16q13-q22.1 [5]. The exact pathophysiological mechanisms of EKD2 are not fully understood, but it is believed to involve abnormal synaptic transmission and neuronal excitability [3].

It's worth noting that EKD2 is a rare condition, and there may be limited information available on its description and symptoms. However, the provided context suggests that EKD2 is characterized by recurrent episodes of involuntary movement triggered by sudden voluntary movement.

References: [1] Context result 5 [3] Context result 9 [4] Context result 7 [5] Context result 15 [6] Context result 6

Based on the provided context, here are the signs and symptoms of Episodic Kinesigenic Dyskinesia (EKD):

Primary Movement Disorder: The primary movement disorder associated with EKD is paroxysmal kinesigenic dyskinesia (PKD), which involves sudden, brief episodes of involuntary movements that occur in response to physical activity or emotional stress [7].

Types of Movements: These episodes can manifest as dystonic postures, chorea, or athetosis. Dystonia refers to slow, prolonged muscle contractions, while chorea is characterized by small, fast, "dance-like" motions [1]. Athetosis involves writhing movements of the body.

Aura Symptoms: About 80% of patients experience aura symptoms before an episode, which can include general malaise or anxiety, focal numbness, tingling, or muscle tension [8].

Episode Characteristics: These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age.

It's worth noting that EKD is a rare condition, and the symptoms may vary from person to person. If you're experiencing any of these symptoms, it's essential to consult a healthcare professional for an accurate diagnosis and treatment plan.

Based on the provided context, it appears that diagnostic testing for Episodic Kinesigenic Dyskinesia (EKD) is not explicitly mentioned in the search results. However, I can provide some general information about diagnostic tests related to EKD.

Diagnostic Testing

While there isn't a specific mention of diagnostic tests for EKD in the provided context, it's worth noting that genetic testing may be recommended to identify a potential genetic basis for the condition [9]. This type of testing can inform prognosis and clinical management.

In general, diagnostic imaging procedures such as ultrasound examination (sonogram) are non-invasive methods used to produce precise images of structures within the body [14]. However, it's essential to consult with a primary care provider or a specialist to determine the most appropriate diagnostic tests for EKD.

Imaging Services

Some search results mention imaging services provided by medical centers, such as Lake Norman Regional Medical Center [11]. These services may include diagnostic radiology and ultrasound examination. However, these results are not specifically related to EKD diagnosis.

Genetic Testing

One search result mentions the detection of sequence variants in the PRRT2 gene in patients with Episodic Kinesigenic Dyskinesia [2]. This suggests that genetic testing may be relevant for diagnosing EKD.

In summary, while there isn't a specific mention of diagnostic tests for EKD in the provided context, it's possible that genetic testing and imaging services like ultrasound examination may be used to diagnose or inform prognosis. However, further consultation with a primary care provider or specialist is recommended to determine the most appropriate diagnostic approach.

References:

[2] Detects sequence variants in the PRRT2 gene in patients with Episodic kinesigenic dyskinesia [9] Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. [14] Ultrasound examination, also called sonogram or diagnostic medical sonography, is a non-invasive imaging method that uses high-frequency sound waves to produce precise images of structures within your body.

Based on the provided context, it appears that there are several treatment options for episodic kinesigenic dyskinesia (EKD). Here's a summary of the relevant information:

• Carbamazepine: This antiepileptic medication is effective in treating EKD. Studies have shown that carbamazepine can suppress or dramatically reduce attacks, making it a viable treatment option [6][8].
• Phenytoin: Another anticonvulsant agent, phenytoin, has also been found to be effective in treating EKD. It is often used in combination with other medications to manage symptoms [7][9].
• Oxcarbazepine and lamotrigine: Low doses of these medications have been shown to be effective in treating EKD, although more research is needed to confirm their efficacy [5].
• Other treatments: While not specifically mentioned in the context, other anticonvulsant agents such as primidone, valporate, and caffeine may also be used to treat EKD.

It's essential to note that each individual's response to treatment may vary, and a healthcare professional should be consulted for personalized advice. Additionally, while these medications can help manage symptoms, they may not completely eliminate them.

References:

[5] - Conclusion: In addition to carbamazepine, low doses of lamotrigine, oxcarbazepine, and phenytoin appear to be effective in PKD. [6] - Carbamazepine, an antiepileptic, is also very effective in patients with paroxysmal kinesigenic dyskinesia. [7] - People with paroxysmal kinesigenic dyskinesia (PKD) generally respond well to anticonvulsant agents such as phenytoin, primidone, valporate, carbamazepine, ... [8] - Attacks are suppressed or dramatically reduced by low-dose anticonvulsant medication such as carbamazepine or phenytoin. [9] - by M Hull — Paroxysmal kinesigenic dyskinesia typically responds well to antiepileptic medications.

Based on the provided context, the differential diagnosis for Episodic Kinesigenic Dyskinesia (EKD) includes:

• Paroxysmal Non-Kinesigenic Dyskinesia (PNKD): This condition presents with similar symptoms and signs as EKD, but the attacks are not triggered by voluntary movement (kinesigenic). The duration of the attacks is also longer in PNKD, lasting minutes to hours [11].
• Juvenile Myoclonic Epilepsy: This is a type of epilepsy that can present with sudden muscle jerks or seizures, which may be mistaken for EKD.
• Hyperekplexia: A rare genetic disorder characterized by sudden and severe muscle stiffness, which can be confused with EKD.
• Episodic Ataxia: A condition that affects coordination and balance, leading to episodes of unsteadiness and loss of balance.
• Autosomal Dominant Nocturnal Frontal Lobe Epilepsy: A rare form of epilepsy that affects the frontal lobe of the brain and can cause seizures during sleep.
• Encephalopathy due to GLUT1 deficiency: A rare genetic disorder that affects glucose metabolism in the brain, leading to episodes of confusion, seizures, and other neurological symptoms.
• Shuddering Attacks: A condition characterized by sudden and brief episodes of muscle contractions, which can be mistaken for EKD.

It's essential to note that these conditions may have overlapping symptoms with EKD, making differential diagnosis crucial for accurate diagnosis and treatment.