episodic ataxia type 5

Episodic ataxia type 5 (EA5) is an extremely rare form of hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours [5]. These episodes can be accompanied by other symptoms such as tinnitus, blurred vision, diplopia, myokymia, tremor, obtundation, or headache [4].

The most common symptoms of EA5 include:

• Episodes of Ataxia (difficulty with balance and coordination) [3]
• Unclear speech (dysarthria) interspersed with periods of normal or near-normal speech [3]
• Recurrent episodes of vertigo lasting several hours [2, 5]

Interictal examination may show spontaneous downbeat and gaze-evoked nystagmus [6]. EA5 is caused by a heterozygous mutation in the CACNB4 gene on chromosome 2q23 [9].

It's worth noting that episodic ataxia type 5 is an extremely rare condition, and more research is needed to fully understand its characteristics and symptoms.

Episodic Ataxia Type 5 (EA5) Signs and Symptoms

Episodic ataxia type 5 (EA5) is a rare form of hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia. The symptoms can vary in severity and duration, but here are some common signs and symptoms associated with EA5:

• Recurrent episodes of vertigo: Vertigo is a feeling of spinning or dizziness that can last for several hours.
• Ataxia: Ataxia refers to a lack of coordination and balance. People with EA5 may experience difficulty walking, balancing, or moving during episodes.
• Diplopia (double vision): Some individuals with EA5 may experience double vision between episodes.
• Gaze-evoked nystagmus: This is an involuntary eye movement that can occur when looking at a specific point.
• Episodic impaired smooth pursuit: Smooth pursuit refers to the ability to track moving objects with the eyes. Impaired smooth pursuit can be a symptom of EA5.

Additional symptoms

Some people with EA5 may also experience:

• Muscle weakness and tremors
• Temporary paralysis
• Numbness or tingling in the body
• Coughing (in some cases)

It's essential to note that these symptoms can vary in severity and duration, and not everyone with EA5 will experience all of them. If you suspect you or a loved one has episodic ataxia type 5, consult a healthcare professional for proper diagnosis and treatment.

References:

• [2] Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia ...
• [9] An extremely rare form of hereditary episodic ataxia with characteristics of recurrent episodes of vertigo and ataxia lasting several hours.

Diagnostic Tests for Episodic Ataxia Type 5

Episodic ataxia type 5 (EA5) is a rare genetic disorder that affects the nervous system. Diagnosing EA5 can be challenging, but several diagnostic tests can help confirm the condition.

• Genetic Testing: Genetic testing is a crucial step in diagnosing EA5. A blood test or DNA analysis can identify mutations in the CACNB4 gene, which is associated with EA5 [9].
• Neurological Examination: A thorough neurological examination by a neurologist can help determine whether a person has symptoms typical of EA5. This examination may include tests to assess balance, coordination, and other motor functions [7].
• Electromyography (EMG): EMG is a test that measures the electrical activity of muscles. It can help identify muscle weakness or abnormalities associated with EA5 [10].

While these diagnostic tests can help confirm EA5, it's essential to note that no specific treatment exists for this condition. However, early diagnosis and management by a neurologist can improve quality of life.

References:

[7] - A thorough neurological examination can determine whether a person has symptoms typical of Episodic Ataxia. [9] - Diagnosis can be made by a combination of clinical features and confirmed by genetic testing. EA2 is usually distinguished from other EAs by attack duration and ... [10] - Jan 15, 2019 — EA is diagnosed using tests such as a neurological examination, electromyography (EMG), and genetic testing. There is no specific treatment for ...

Episodic Ataxia Type 5 (EA5) is a rare form of episodic ataxia that is associated with seizures. The treatment for EA5 typically involves managing the symptoms and preventing seizures.

According to the search results, seizures are a key feature of EA5 [5]. In this context, antiseizure medications can be effective in reducing the frequency and severity of seizures. Specifically, carbamazepine, phenytoin, and lamotrigine have been found to be effective in diminishing attacks in patients with EA5 [1, 5, 6].

Additionally, a comprehensive systematic review on the treatment of cerebellar motor dysfunction and ataxia found class I evidence for the effectiveness of 4-aminopyridine 15 mg/day in episodic ataxia type 2, which may also be relevant to EA5 [15]. However, it's essential to note that this information is based on a review of EA2, and more research is needed to confirm its efficacy specifically for EA5.

It's also worth mentioning that acetazolamide has been found to be effective in controlling episodes of ataxia with EA2 (Griggs et al., 1978), but there is limited information available on its use in EA5 [12].

In summary, while the treatment options for EA5 are not well established, antiseizure medications such as carbamazepine, phenytoin, and lamotrigine may be effective in managing seizures associated with this condition. However, further research is needed to confirm the efficacy of these treatments specifically for EA5.

Differential Diagnosis of Episodic Ataxia Type 5

Episodic ataxia type 5 (EA5) is a rare form of hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours. When considering the differential diagnosis for EA5, it's essential to rule out other conditions that may present with similar symptoms.

Other Conditions to Consider:

• Paroxysmal dyskinesia: A rare movement disorder that can cause sudden, involuntary movements.
• Seizures: Epileptic seizures can manifest as episodes of ataxia or vertigo.
• Migraines: Migraine attacks with aura can include symptoms such as vertigo and ataxia.
• Vascular disease: Cerebellar hemorrhage or infarction can cause acute onset of ataxia.
• Epilepsy: Epileptic seizures can manifest as episodes of ataxia or vertigo.

Key Diagnostic Features:

• Family history: A family history of ataxia is helpful for diagnosing genetic ataxias, including EA5.
• Neurological symptoms: Other neurological symptoms, such as nystagmus or scanning speech, may help with the diagnosis.
• Examination findings: Corroborating examination findings can aid in ruling out other conditions.

Diagnostic Approach:

To diagnose EA5, it's crucial to work with a doctor and find the right specialists. Coordinating medical care and taking steps toward getting a diagnosis are essential for accurate identification of this rare condition.

References:

• [14] Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.
• [15] Other neurological symptoms, when corroborated by examination findings, may help with the diagnosis. Family history of ataxia, when present, is very helpful for diagnosis of genetic ataxias.
• [11] A detailed clinical description of episodic ataxia type 5 will help identify this condition more readily.