Myoclonic seizures are brief shock-like jerks of a muscle or group of muscles. They occur in a variety of epilepsy syndromes that have different characteristics. During a myoclonic seizure, the person is usually awake and able to think clearly. Benign adult familial myoclonic epilepsy is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks, and rare convulsive seizures. In most affected individuals, the disease takes a benign course; however, at advanced age.
Ishiura et al. (2018) reported a small Japanese family (F8241) with familial adult myoclonic epilepsy. Clinical details were limited. The male proband showed myoclonic tremor from the age of 18 years. He had a seizure at age 27, when anitconvulsants and beta-blocker were started. A number sign (#) is used with this entry because of evidence that familial adult myoclonic epilepsy-6 (FAME6) is caused by a heterozygous 5-bp repeat expansion (TTTCA(n)) in the TNRC6A gene on chromosome 16p12.One such family has been reported.
In myoclonic epilepsy, the myoclonic jerking motions occur as part of the seizure. In PME, myoclonus occurs separately from seizures, the two respond differently to the same drugs, they evolve differently during the natural history of the disease, and they cause different problems for the patient. Some drugs that are good for seizures, e.g. Seizure types in adult epilepsies Epilepsy may develop in adults for a number of reasons. In the early part of adult life it is common to see a number of patients presenting with idiopathic generalised epilepsies, particularly juvenile myoclonic epilepsy and epilepsy with wakening tonic-clonic seizures.
Apr 01, 2012 · Background Familial adult myoclonic epilepsy (FAME) is an autosomal dominant syndrome characterized by a core triad of cortical tremor, multifocal myoclonus, and generalized tonic-clonic seizures.. Objectives To expand the phenotypic spectrum of FAME, to highlight diagnostic pointers to this underrecognized disorder, and to refine the FAME2 genetic locus.Cited by: 18. Myoclonic epilepsy benign, adult, familial: Introduction. Myoclonic epilepsy benign, adult, familial: A rare familial disorder characterized by muscle jerking and seizures in adults. The disorder is not progressive and is fairly harmless with only minor fine motor control problems.