juvenile myoclonic epilepsy is it genetic?
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The inheritance pattern of juvenile myoclonic epilepsy is not completely understood. When the condition is caused by mutations in the GABRA1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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Familial periodic paralysis is a rare autosomal dominant condition with considerable variation in penetrance characterized by episodes of flaccid paralysis with loss of deep tendon reflexes and failure of muscle to respond to electrical stimulation.
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Many cardiac disorders can be inherited, including arrhythmias, congenital heart disease, cardiomyopathy, and high blood cholesterol. Coronary artery disease leading to heart attack, stroke, and heart failure can run in families, indicating inherited genetic risk factors.
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Myoclonic jerks or seizures in JME typically happen within 1 to 2 hours of waking up in the morning or after a nap. They are described as shock-like and irregular movements of both arms. Sometimes the movements happen only in the fingers, making the person look clumsy or prone to dropping things.
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Kids with juvenile myoclonic epilepsy (JME) have one or more of several different kinds of seizures. These include absence seizures, myoclonic seizures, and generalized tonic-clonic seizures, which begin around the age of puberty. Seizures may lessen in adulthood, but medicine may be needed for life.
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The inherited variety of essential tremor (familial tremor) is an autosomal dominant disorder. A defective gene from just one parent is needed to pass on the condition. If you have a parent with a genetic mutation for essential tremor, you have a 50 percent chance of developing the disorder yourself.
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Epilepsy often runs in families. Family studies have shown that some epilepsy syndromes are completely determined by genetics, and genes are a major factor in other syndromes. Some inherited metabolic conditions also raise the likelihood of having seizures, as do some chromosomal disorders.
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Attention-deficit/hyperactivity disorder (ADHD) occurs more frequently in people with epilepsy than in the general population. Children with ADHD have an increased risk of seizures, with approximately 14% of children with ADHD developing seizures.
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Mostly no. To date, there is very little evidence that Parry Romberg Syndrome is genetic. There are a few published studies that point towards it being an “autosomal dominant” genetic disorder (Anderson et al.
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Horses with N/H genotype can display episodes of hyperkalemic periodic paralysis. Horses with this genotype are heterozygous for the variant that makes them susceptible to sporadic episodes of muscle tremors or paralysis; clinical symptoms and frequency of episodes depends on other factors such as diet and exercise.
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In hereditary CJD, the person may have a family history of the disease and test positive for a genetic mutation associated with CJD. About 10 to 15 percent of cases of CJD in the United States are hereditary.
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Because an affected person's parents are not affected, autosomal recessive ALS is often mistaken for sporadic ALS even though it is caused by a familial genetic mutation. Very rarely, ALS is inherited in an X-linked dominant pattern.
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Acute repetitive seizures (ARS)—also known as serial, recurrent, or cluster seizures—is a phenomenon in treatment-refractory epilepsy that is characterized by a close temporal association of seizures that exceeds a patient's typical baseline seizure frequency.
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When the condition is caused by mutations in the GABRA1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The inheritance pattern of juvenile myoclonic epilepsy caused by mutations in the EFHC1 gene is not known.
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The best medications for JME and myoclonic seizures are valproic acid, lamotrigine, and topiramate. Levetiracetam is approved by the FDA for adjunctive therapy of JME; this is the first medication approved for this syndrome. Anecdotal evidence suggests that zonisamide might be helpful in JME.
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Most cases of WPW syndrome occur randomly in the general population for no apparent reason (sporadically) and do not run in families. Some cases of WPW syndrome run in families and may be inherited as an autosomal dominant trait.
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Juvenile myoclonic epilepsy (JME) is the most common generalized epilepsy syndrome. It is also called Juvenile Myoclonic Epilepsy of Janz. It typically begins in adolescence. Teens with JME do not have other developmental problems. Myoclonic seizures (brief shock-like muscle jerks) are the most common type of seizure.