scholarly journals Juvenile myoclonic epilepsy: Under-diagnosed syndrome

2011 ◽  
Vol 64 (7-8) ◽  
pp. 381-385
Author(s):  
Ksenija Bozic ◽  
Ksenija Gebauer-Bukurov ◽  
Petar Slankamenac ◽  
Marija Knezevic-Pogancev ◽  
Slobodan Sekulic
Keyword(s):  
Clinical Manifestations ◽  
Juvenile Myoclonic Epilepsy ◽  
Good Prognosis ◽  
Clinical Syndrome ◽  
Myoclonic Epilepsy ◽  
Clinical Criteria ◽  
Age Related ◽  
Increased Risk ◽  
Epilepsy Diagnosis ◽  
Atypical Presentations

Introduction. Juvenile myoclonic epilepsy is an idiopathic, hereditary form of epilepsy. Although juvenile myoclonic epilepsy is a well defined clinical syndrome, attempts at diagnosing it commonly fail. Etiopathogenesis. The exact cause of juvenile myoclonic epilepsy remains unknown. Clinical, morphological and metabolic data suggest a preferential role for frontal regions in this syndrome. Several major genes for juvenile myoclonic epilepsy have been identified, but these genes account for only a small proportions of juvenile myoclonic epilepsy cases, suggesting multifactorial or complex inheritance in most. Clinical Manifestations. Juvenile myoclonic epilepsy is characterized by the triad of myoclonic jerks on awakening (all patients), generalized tonic-clonic seizures (>90% of patients) and typical absences (about one third of patients). Seizures have an age-related onset, circadian distribution and are frequently precipitated by sleep deprivation, fatigue and alcohol intake. Intelligence is normal. Diagnosis. Juvenile myoclonic epilepsy diagnosis is based upon clinical criteria and typical electroencephalographic findings (generalized pattern of spikes and/or polyspikes and waves). All other tests are normal. Treatment and Prognosis. Both medical treatment and counselling are important in the management of juvenile myoclonic epilepsy. Mono-therapy with valproate is the preferred treatment. Some of the newer antiepileptic drugs have been suggested as possible alternatives. Juvenile myoclonic epilepsy has a good prognosis. Lifelong treatment is usually considered necessary in vast majority of patients due to the increased risk of relapse if treatment is discontinued. Conclusion. Juvenile myoclonic epilepsy is a common, although under-diagnosed epileptic syndrome. The clinician should study the occurrence of myoclonic jerks and should consider atypical presentations.

scholarly journals Metabolic and nutritional approach to older frail people

2017 ◽  
Vol 3 (3) ◽  
Author(s):  
Stefano Volpato ◽  
Giovanni Zuliani
Keyword(s):  
Insulin Resistance ◽  
Intervention Studies ◽  
Large Body ◽  
Clinical Manifestations ◽  
Clinical Syndrome ◽  
Frailty Syndrome ◽  
Adequate Nutrition ◽  
Increased Risk ◽  
Prevention And Treatment ◽  
Pharmaceutical Interventions

Frailty is a common clinical syndrome in older adults that carries an increased risk for poor health outcomes including falls, incident disability, hospitalization, and mortality. It is characterized by multisystem dysregulations, leading to a loss of dynamic homeostasis, decreased physiologic reserve, and increased vulnerability to stressors. A large body of literature suggests several important multisystem pathophysiologic processes in the pathogenesis of the frailty syndrome, including chronic inflammation and immune activation, insulin resistance and those in musculoskeletal and endocrine systems. Currently, no effective pharmaceutical interventions have been developed for the prevention and treatment of the frailty syndrome. Conversely, epidemiological and intervention studies suggest that adequate nutrition and physical exercise might prevent or postpone the onset of frailty and related clinical manifestations.

scholarly journals Insulin resistance and sarcopenia: mechanistic links between common co-morbidities

2016 ◽  
Vol 229 (2) ◽  
pp. R67-R81 ◽  
Author(s):  
Mark E Cleasby ◽  
Pauline M Jamieson ◽  
Philip J Atherton
Keyword(s):  
Insulin Resistance ◽  
Skeletal Muscle ◽  
Mammalian Target Of Rapamycin ◽  
Later Life ◽  
The Elderly ◽  
Clinical Syndrome ◽  
Physiological Processes ◽  
Age Related ◽  
Increased Risk ◽  
Amp Activated Protein Kinase

Insulin resistance (IR) in skeletal muscle is a key defect mediating the link between obesity and type 2 diabetes, a disease that typically affects people in later life. Sarcopenia (age-related loss of muscle mass and quality) is a risk factor for a number of frailty-related conditions that occur in the elderly. In addition, a syndrome of ‘sarcopenic obesity’ (SO) is now increasingly recognised, which is common in older people and is applied to individuals that simultaneously show obesity, IR and sarcopenia. Such individuals are at an increased risk of adverse health events compared with those who are obese or sarcopenic alone. However, there are no licenced treatments for sarcopenia or SO, the syndrome is poorly defined clinically and the mechanisms that might explain a common aetiology are not yet well characterised. In this review, we detail the nature and extent of the clinical syndrome, highlight some of the key physiological processes that are dysregulated and discuss some candidate molecular pathways that could be implicated in both metabolic and anabolic defects in skeletal muscle, with an eye towards future therapeutic options. In particular, the potential roles of Akt/mammalian target of rapamycin signalling, AMP-activated protein kinase, myostatin, urocortins and vitamin D are discussed.

Epidemiology and clinical manifestations of juvenile myoclonic epilepsy (JME) in Iran

2014 ◽  
Vol 36 (5) ◽  
pp. 713-716 ◽  
Author(s):  
Ali A. Asadi-Pooya ◽  
Zabihollah Hashemzehi ◽  
Mehrdad Emami
Keyword(s):  
Clinical Manifestations ◽  
Juvenile Myoclonic Epilepsy ◽  
Myoclonic Epilepsy

scholarly journals Case Report: Four Cases of Panayiotopoulos Syndrome Evolving to Juvenile Myoclonic Epilepsy

2020 ◽  
Vol 11 ◽  
Author(s):  
Hideo Enoki ◽  
Shinji Itamura ◽  
Shimpei Baba ◽  
Tohru Okanishi ◽  
Ayataka Fujimoto
Keyword(s):  
Focal Epilepsy ◽  
Age At Onset ◽  
Juvenile Myoclonic Epilepsy ◽  
Good Prognosis ◽  
Myoclonic Epilepsy ◽  
Future Evolution ◽  
Generalized Epilepsy ◽  
Long Term Observation ◽  
Panayiotopoulos Syndrome

Panayiotopoulos syndrome (PS) is a self-limited focal epilepsy appearing in childhood. Seizures in PS are self-limiting and do not usually continue into adulthood. Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy, developing around puberty and continuing throughout adulthood. We describe four cases of PS in childhood in which JME developed in adolescence. Age at onset ranged from 4 to 8 years for PS, and 11 to 14 years for JME. JME developed after PS subsided, with the interval between last PS seizure and first JME seizure ranging from 1 to 10 years. No link between the two conditions has previously been described. Since PS is considered to show good prognosis and to be self-limiting, long-term observation has been considered unnecessary. No definitive factors were found to predict future evolution to JME in our series, so longer-term follow-up may be warranted for all PS patients.

scholarly journals Altered Structural and Functional Connectivity of Juvenile Myoclonic Epilepsy: An fMRI Study

2018 ◽  
Vol 2018 ◽  
pp. 1-12 ◽  
Author(s):  
Chengqing Zhong ◽  
Rong Liu ◽  
Cheng Luo ◽  
Sisi Jiang ◽  
Li Dong ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Functional Connectivity ◽  
Gray Matter Volume ◽  
Clinical Manifestations ◽  
Juvenile Myoclonic Epilepsy ◽  
Myoclonic Epilepsy ◽  
Middle Temporal Gyrus ◽  
Resonance Imaging ◽  
The Right

The aim of this study was to investigate the structural and functional connectivity (FC) of juvenile myoclonic epilepsy (JME) using resting state functional magnetic resonance imaging (rs-fMRI). High-resolution T1-weighted magnetic resonance imaging (MRI) and rs-fMRI data were collected in 25 patients with JME and in 24 control subjects. A FC analysis was subsequently performed, with seeding at the regions that demonstrated between-group differences in gray matter volume (GMV). Then, the observed structural and FCs were associated with the clinical manifestations. The decreased GMV regions were found in the bilateral anterior cerebellum, the right orbital superior frontal gyrus, the left middle temporal gyrus, the left putamen, the right hippocampus, the bilateral caudate, and the right thalamus. The changed FCs were mainly observed in the motor-related areas and the cognitive-related areas. The significant findings of this study revealed an important role for the cerebellum in motor control and cognitive regulation in JME patients, which also have an effect on the activity of the occipital lobe. In addition, the changed FCs were related to the clinical features of JME patients. The current observations may contribute to the understanding of the pathogenesis of JME.

FV 837. Early Withdrawal of Antiepileptic Medication in Patients with Juvenile Myoclonic Epilepsy Is Justifiable!

2018 ◽  
Author(s):  
Gerhard Kurlemann ◽  
Jana Krois-Neudenberger ◽  
Oliver Schwartz ◽  
Beate Jensen ◽  
Jürgen Althaus ◽  
...  
Keyword(s):  
Juvenile Myoclonic Epilepsy ◽  
Myoclonic Epilepsy ◽  
Early Withdrawal ◽  
Antiepileptic Medication

Behavior problems in patients with juvenile myoclonic epilepsy (JME)

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
B Plattner ◽  
J Kindler ◽  
G Pahs ◽  
L Urak ◽  
H Mayer ◽  
...  
Keyword(s):  
Behavior Problems ◽  
Juvenile Myoclonic Epilepsy ◽  
Myoclonic Epilepsy
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