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Brugada syndrome (BrS) is a genetic disorder in which the electrical activity of the heart is abnormal due to channelopathy. [2] It increases the risk of abnormal ...
Long QT syndrome, the most common form of cardiac channelopathy, is characterized by prolonged ventricular repolarization, predisposing to a high risk of ventricular tachyarrhythmias (e.g., torsade de pointes), syncope, and sudden cardiac death.
Rare diseases called ion channelopathies may play a role such as long QT syndrome (LQTS), Brugada syndrome (BrS), CPVT (catecholaminergic polymorphic ventricular tachycardia), progressive cardiac conduction defect (PCCD), early repolarization syndrome, mixed sodium channel disease, and short QT syndrome. [13]
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction.
Long QT syndrome is estimated to affect 1 in 7,000 people. [6] Females are affected more often than males. [6] Most people with the condition develop symptoms before they are 40 years old. [6] It is a relatively common cause of sudden death along with Brugada syndrome and arrhythmogenic right ventricular dysplasia. [3]
Brugada syndrome can result in ventricular fibrillation and potentially death. It is a major cause of sudden unexpected cardiac death in young, otherwise healthy people. [ 13 ] While the characteristic patterns of Brugada syndrome on an electrocardiogram may be seen regularly, often the abnormal pattern is only seen spontaneously due to unknown ...
The cast of "Friends." From left to right: Matt LeBlanc, Lisa Kudrow, Courteney Cox, David Schwimmer, Jennifer Aniston and Matthew Perry.
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.