Episodic ataxia type 1 and type 2 panel

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Tiempo de espera: 

30 dias

Más información

Episodic ataxia is a neurological pathology that it is characterized by periods of lack of coordination and balance, slurred speech or dysarthria, often associated with progressive ataxia, combined with periods of normal neurological functioning.
Episodic ataxia is a genetically heterogeneous disorder, which has up to 7 different types of disease. Episodic ataxia type I and type II are the most popular, and are associated with mutations in genes KCNA1 (12p13.32) and CACNA1A (19p13.2), respectively. Both have an autosomal dominant inheritance.
In sick patients, the attacks are triggered usually after performing activities that require intense emotional stress, exercise, or rapid changes in position, among others. Acetazolamide can stop or reduce the frequency and severity of symptoms.
Episodic ataxia type 1 (AE1) is produced as a result of heterozygous mutations in the gene KCNA1, which encodes a potassium channel activated by voltage.
Patients with this disorder experience a number of twitching in the head, legs and arms, causing loss of balance and motor coordination. The AE1 is associated with an increased incidence of epilepsy. The onset of the disease occurs in childhood or early adolescence.
Episodic ataxia type 2 (EA2) is produced as a result of heterozygous mutations in CACNA1A, which encodes a subunit a1A brain calcium channel P / Q type voltage-gated.
EA2 patients may experience paroxysmal attacks of ataxia, dizziness and nausea which comprise from 30 minutes to days. The onset of the disease occurs in childhood or early adolescence, like EA1.
Attacks may be associated to other symptoms such as headache (mostly of individuals appears migraine), dysarthria, diplopia, tinnitus, and hemiplegia. The frequency of attacks may vary from three or four times a week to once or twice a year.
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Tomado de GeneReviews

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