Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED).The age of onset depends on the specific PME but PME can affect people of all ages. In Unverricht-Lundborg disease (ULD) the age of onset is between 6–15 years, while in Adult Neuronal ceroid lipofuscinoses (Adult NCL) the age of onset can be as late as 30.Symptoms often include action or stimuli induced myoclonus, seizures, neuropathy, cognitive decline, and spike and wave or no cerebral discharges. The prognosis of those diagnosed with PME is poor. The person often becomes reliant on a wheelchair, enters a vegetative state due to myoclonus, and has a shortened life expectancy. Signs and symptoms
The most common symptom of PME is myoclonus. The myoclonus can be fragmented or multifocal and can be triggered by posture, actions, and external stimuli such as light, sound, and touch. The type of myoclonus differs between the types of PME.
Pericarditis is inflammation of the pericardium, the fibrous sac surrounding the heart. Symptoms typically include sudden onset of sharp chest pain, which may also be felt in the shoulders, neck, or back. The pain is typically less severe when sitting up and more severe when lying down or breathing deeply. Other symptoms of pericarditis can include fever, weakness, palpitations, and shortness of breath. The onset of symptoms can occasionally be gradual rather than sudden.The cause of pericarditis often remains unknown but is believed to be most often due to a viral infection. Other causes include bacterial infections such as tuberculosis, uremic pericarditis, heart attack, cancer, autoimmune disorders, and chest trauma. Diagnosis is based on the presence of chest pain, a pericardial rub, specific electrocardiogram (ECG) changes, and fluid around the heart. A heart attack may produce similar symptoms to pericarditis.Treatment in most cases is with NSAIDs and possibly the anti-inflammatory medication colchicine. Steroids may be used if these are not appropriate. Symptoms usually improve in a few days to weeks but can occasionally last months. Complications can include cardiac tamponade, myocarditis, and constrictive pericarditis. Pericarditis is an uncommon cause of chest pain. About 3 per 10,000 people are affected per year. Those most commonly affected are males between the ages of 20 and 50. Up to 30% of those affected have more than one episode. Signs and symptoms
Substernal or left precordial pleuritic chest pain with radiation to the trapezius ridge (the bottom portion of scapula on the back) is the characteristic pain of pericarditis.