episodic ataxia type 3

Episodic ataxia type 3 (EA3) is a rare form of hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia [5][6]. This condition affects the nervous system and causes problems with movement and coordination.

The most common symptoms of EA3 include:

• Episodes of ataxia (difficulty with balance and coordination) [4]
• Unclear speech (dysarthria) interspersed with periods of normal or near-normal speech [4]
• Vestibular ataxia, which affects the inner ear and causes problems with balance and equilibrium
• Vertigo, which is a feeling of spinning or dizziness
• Tinnitus, which is a ringing or other sound in the ears
• Interictal myokymia, which are abnormal muscle contractions that occur between episodes of ataxia

Episodes of EA3 can last from a few minutes to several hours, and may be triggered by various factors such as stress, fatigue, or certain medications [8]. The condition is more rare than spinocerebellar ataxia and is clinically characterized by attacks of ataxia with clear onset and resolution [7].

It's worth noting that EA3 is a genetic condition, and the symptoms can vary in severity and frequency from person to person. Treatment for EA3 typically involves medication and physical therapy to manage symptoms and improve quality of life.

References: [4] - Description of episodic ataxia type 3 symptoms [5] - Rare form of hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia [6] - Vestibular ataxia, vertigo, tinnitus, and interictal myokymia are symptoms of EA3 [7] - Clinically characterized by attacks of ataxia with clear onset and resolution [8] - Episodes can last from a few minutes to several hours and may be triggered by various factors

Episodic Ataxia Type 3 (EA3) Signs and Symptoms

Episodic Ataxia Type 3 (EA3) is a rare genetic disorder characterized by recurring episodes of vertigo, tinnitus, and migraine headaches. The symptoms of EA3 can vary in severity and frequency, but they often include:

• Vertigo: A feeling of spinning or dizziness that can last for several minutes to hours [7].
• Tinnitus: Ringing or other sounds in the ears that can be loud or soft [5].
• Migraine headaches: Severe headaches that can occur with or without vertigo and tinnitus [7].
• Ataxia: Difficulty with balance and coordination, which can lead to falls or loss of balance [4].
• Unclear speech (dysarthria): Slurred, slow, and unclear speech during episodes [4].

These symptoms are often accompanied by other signs such as:

• Nausea and vomiting
• Diplopia (double vision)
• Muscle spasms

It's essential to note that the frequency and severity of these symptoms can vary from person to person, and some individuals may experience additional symptoms not listed here.

References: [4] - Context 4 [5] - Context 5 [7] - Context 7

Diagnostic Tests for Episodic Ataxia Type 3

Episodic ataxia type 3 (EA3) is a rare genetic disorder that affects the nervous system. Diagnosing EA3 can be challenging, but several diagnostic tests can help confirm the condition.

• Genetic Testing: Genetic testing is a crucial step in diagnosing EA3. This test involves sequencing of specific genes, including CACNA1A, SLC1A3, KCNA1, and CACNB4 [9]. These genes are commonly associated with episodic ataxia.
• Neurological Examination: A thorough neurological examination can help determine whether a person has symptoms typical of EA3. This examination is usually performed by a neurologist or a brain and nervous system specialist (neurologist) [10].
• Electromyography (EMG): EMG is another diagnostic test that may be used to diagnose EA3. It measures the electrical activity of muscles and can help identify any abnormalities in muscle function.
• Clinical Features: A combination of clinical features, such as age of onset, length of episodes, and pattern of signs and symptoms, can also aid in diagnosing EA3 [6].

It's essential to note that a diagnosis of EA3 is typically made by a neurologist or other medical specialists. They will consider the results of these diagnostic tests, along with the patient's medical history and physical examination, to confirm the condition.

References:

[6] A Hassan · 2023 · Cited by 15 — Diagnosis can be made by a combination of clinical features and confirmed by genetic testing. EA2 is usually distinguished from other EAs by ...

[9] This test includes sequencing of the following genes CACNA1A, SLC1A3, KCNA1, and CACNB4. This test covers the most common causes for episodic ataxia, which ...

[10] A neurologist is often the most helpful specialist in diagnosing episodic ataxia. A thorough neurological examination can determine whether a person has.

Note: The above information is based on the search results provided and may not be an exhaustive list of diagnostic tests for EA3.

Episodic Ataxia Type 3 (EA3) is a rare genetic disorder that affects the nervous system, causing episodes of ataxia, which is a lack of muscle coordination and balance. While there is no cure for EA3, various medications can help manage symptoms.

Medications to Consider

According to medical research [8], acetazolamide has been found to be effective in controlling episodes of ataxia with EA2, but its effectiveness in EA3 is not well established. However, some studies suggest that antiseizure medications like carbamazepine, phenytoin, and lamotrigine may also help diminish attacks [9].

Additionally, muscle relaxant agents such as chlorzoxazone have been proposed as a new potentially effective treatment for EA2, but their efficacy in EA3 is unknown.

Other Treatment Options

As with other ataxias, there is no curative or disease-attenuating treatment for SCA3 despite past efforts from researchers [4]. Depending on symptoms, healthcare providers may recommend medications that block nerve channels to help control or reduce ataxia [5].

It's essential to note that these treatments are not specifically approved for EA3 and may have varying degrees of success. More research is needed to determine the most effective treatment options for this condition.

References

[4] As with other ataxias, there is no curative or disease-attenuating treatment for SCA3 despite past efforts from researchers. [5] Depending on your symptoms, healthcare providers may recommend medications that block nerve channels. These medications can help control or reduce ataxia ... [8] Acetazolamide was also serendipitously found to be effective in controlling episodes of ataxia with EA2 (Griggs et al., 1978) and there have been multiple ... [9] A variety of antiseizure medications can diminish attacks, including carbamazepine, phenytoin, and lamotrigine [1,5,6].

Episodic Ataxia Type 3 (EA3) Differential Diagnosis

Episodic Ataxia Type 3 (EA3) is a rare genetic disorder characterized by recurring episodes of vertigo, tinnitus, and ataxia. The differential diagnosis for EA3 involves ruling out other episodic neurological disorders that may present with similar symptoms.

Possible Conditions to Consider:

• Vestibular Migraine: A type of migraine that affects the vestibular system, leading to vertigo, dizziness, and balance problems.
• Migraine with Brainstem Aura: A subtype of migraine that involves aura symptoms originating from the brainstem, which can include vertigo, tinnitus, and ataxia.
• Peripheral Vestibular Disorders (e.g., BPPV, Vestibular Neuritis): Conditions affecting the inner ear or vestibulocochlear nerve, leading to balance problems and vertigo.

Key Considerations for Differential Diagnosis:

• Age of Onset: EA3 typically presents in childhood or adolescence.
• Pattern of Symptoms: Vertigo, tinnitus, and ataxia are characteristic symptoms of EA3.
• Family History: A family history of similar episodes may suggest a genetic component.

References:

• [7] EA type 3 (EA 3), for which no specific mutations have been identified thus far, is characterized by attacks of vertigo, tinnitus, and ataxia.38
• [8] Vestibular migraine. Migraine with brainstem aura. Peripheral vestibular disorders (e.g., BPPV, Vestibular neuritis) are also considered in the differential diagnosis for episodic ataxia.
• [9] The main differential diagnosis of the episodic ataxia syndromes is between other episodic neurological disorders such as epilepsy, paroxysmal dyskinesia and EA3.