episodic ataxia type 7

Episodic Ataxia Type 7 (EA7): A Rare Neurological Disorder

Episodic ataxia type 7 (EA7) is a rare and extremely rare form of hereditary episodic ataxia characterized by episodes of weakness, vertigo, and dysarthria. It is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition.

Key Features:

• Episodes of Weakness: People with EA7 experience episodes of muscle weakness, which can range from mild to severe.
• Vertigo and Dizziness: Vertigo and dizziness are common symptoms during these episodes.
• Dysarthria: Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. In the case of EA7, dysarthria may be present during episodes.
• No Interictal Findings: Unlike other forms of episodic ataxia, EA7 does not have interictal findings, meaning that there are no symptoms between episodes.

Prevalence and Genetics:

EA7 is an exceedingly rare form of hereditary episodic ataxia. The exact prevalence is unknown, but it is considered to be less than 1 in 1 million people. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.

References:

• [2] Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without.
• [10] Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.
• [12] Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.

Episodic Ataxia Type 7 (EA7) Signs and Symptoms

Episodic ataxia type 7 (EA7) is a rare form of hereditary episodic ataxia characterized by episodes of ataxia, weakness, vertigo, and other symptoms. The following are the common signs and symptoms associated with EA7:

• Ataxia: Poor muscle control that affects coordination and balance [3].
• Weakness: Muscle weakness is a common symptom in people with EA7 [4].
• Vertigo: Episodes of vertigo, which can cause dizziness and loss of balance [3].
• Muscle spasms: Some individuals may experience muscle spasms during episodes [6].
• Involuntary eye movements (nystagmus): Repetitive eye movements may occur between episodes [7].
• Delayed development: Children with EA7 may experience delayed development of speech or motor skills, such as standing and walking [1][8].

Other reported symptoms

• Muscle tremors
• Temporary paralysis
• Slurred, slow, and unclear speech (dysarthria)
• Problems with balance and coordination

It's essential to note that the severity and frequency of these symptoms can vary from person to person. If you or someone you know is experiencing these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [1] - Context result 1 [2] - Not applicable (no relevant information) [3] - Context result 3 [4] - Context result 9 [5] - Not applicable (no relevant information) [6] - Context result 6 [7] - Context result 7 [8] - Context result 1

Diagnostic Tests for Episodic Ataxia Type 7

Episodic ataxia type 7 (EA7) is a rare form of hereditary episodic ataxia, and its diagnosis can be challenging. However, several diagnostic tests can help confirm the condition.

• Neurological Examination: A thorough neurological examination by a neurologist or a brain and nervous system specialist (neurologist) can determine whether a person has symptoms typical of EA7 [8].
• Genetic Testing: Genetic testing is essential to confirm the diagnosis of EA7. This test can identify the specific genetic mutation responsible for the condition [10].
• Electromyography (EMG): EMG may be performed to rule out other conditions that cause similar symptoms.
• Other Tests: Additional tests, such as a thorough neurological examination and electromyography (EMG), may also be conducted to confirm the diagnosis of EA7.

It's essential to note that there is no specific treatment for episodic ataxia type 7. However, early diagnosis can help manage the symptoms and improve quality of life.

References:

[1] - Not relevant [2] - Clinical resource with information about Episodic ataxia type 7 and its clinical features, available genetic tests from US and labs around the world and ... [3] - A group of related conditions that affect the nervous system and cause problems with movement and coordination. [4] - A thorough neurological examination can determine whether a person has symptoms typical of Episodic Ataxia. [5] - Oct 14, 2024 — Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ... [6] - May 3, 2023 — Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement and coordination. [7] - Jan 15, 2019 — EA is diagnosed using tests such as a neurological examination, electromyography (EMG), and genetic testing. There is no specific treatment for ... [8] - A thorough neurological examination can determine whether a person has symptoms typical of episodic ataxia. [9] - Researchers have identified at least 7 types of episodic ataxia, designated type 1 through type 7. The types are distinguished by their pattern of signs and ... [10] - by 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 attack duration and ...

Episodic Ataxia Type 7 (EA7) is an exceedingly rare form of Hereditary Episodic Ataxia characterized by ataxia with weakness, vertigo, and dysarthria. While there is no cure for EA7, symptoms can often be reduced or eliminated with medication.

According to the available information, medications such as dalfampridine and fampridine have been proposed as new treatments for EA2, which may also be effective in treating EA7 [6]. Additionally, 4-aminopyridine and acetazolamide have been used to treat EA2, and there is a possibility that they could also be beneficial in treating EA7.

It's worth noting that treatment with the carbonic anhydrase inhibitor acetazolamide decreases the frequency and duration of attacks in all but Episodic Ataxia Type 4 (EA4) [7]. However, more research is needed to confirm the effectiveness of these medications for EA7 specifically.

In general, healthcare providers can help manage symptoms with medications and physical therapy. It's essential to consult a medical professional for personalized advice on managing EA7 symptoms.

References: [5] - Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria ... [6] - New treatments for EA2 include dalfampridine and fampridine, in addition to 4-aminopyridine and acetazolamide. There are recent proposals for EA9–10. EA may ... [7] - Treatment with the carbonic anhydrase inhibitor acetazolamide decreases the frequency and duration of the attacks in all but episodic ataxia type 4 (EA4).362.

Based on the provided context, it appears that Episodic Ataxia Type 2 (EA2) has a differential diagnosis that includes CACNA1A allelic disorders such as Familial Hemiplegic Migraine 1 (FHM1) and Spinocerebellar Ataxia 6 (SCA6). These conditions are sometimes associated with EA2, particularly FHM1.

• Differential Diagnosis: The differential diagnosis for Episodic Ataxia Type 2 includes CACNA1A allelic disorders such as Familial Hemiplegic Migraine 1 and Spinocerebellar Ataxia 6 [7].
• Familial Hemiplegic Migraine 1 (FHM1): FHM1 is sometimes associated with EA2, particularly in cases where the symptoms are not clearly defined. This condition affects the nervous system and can cause problems with movement and coordination.
• Spinocerebellar Ataxia 6 (SCA6): SCA6 is another CACNA1A allelic disorder that may be associated with EA2, particularly in cases where the symptoms are more severe.

It's essential to note that these conditions have distinct characteristics and should be considered as part of a comprehensive differential diagnosis for Episodic Ataxia Type 2. A thorough evaluation by a healthcare professional is necessary to determine the correct diagnosis and develop an effective treatment plan.

References: [7] Jul 28, 2014 — CACNA1A allelic disorders such as FHM1 and SCA6 are common differential diagnoses of EA 2 and are sometimes (FHM1) or usually (SCA6) associated with EA2.