Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, is a generalized idiopathic epilepsy. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures. Some of the common monogenic causes include mutations in the genes SLC6A1 (3p25.3),CHD2 (15q26.1), AP2M1 (10q23.2). Signs and symptoms
Tonic-clonic seizures: seizures with repetitive sequences of stiffening and jerking of the extremities. Myoclonic seizures: seizures with rapid, brief contractions of muscles. Atonic seizures: seizures with a sudden loss of muscle tone, often resulting in sudden collapse. These are also called drop seizures or astatic seizures. Absence seizures: a generalized seizure characterized by staring off and occasionally some orofacial automatisms. Myoclonic astatic seizures: seizures that involve a myoclonic seizure followed immediately by an atonic seizure. This type of seizure is exclusive to MAE and is one of the defining characteristics of this syndrome. Tonic seizures: muscle stiffening or rigidity. This seizure is rare in this syndrome. Onset
The onset of seizures is between the ages of 2 and 5 years of age. EEG shows regular and irregular bilaterally synchronous 2- to 3-Hz spike-waves and polyspike patterns with a 4- to 7-Hz background. 84% of affected children show normal development prior to seizures; the remainder show moderate psychomotor retardation mainly affecting speech. Boys (74%) are more often affected than girls (Doose and Baier 1987a). Diagnosis
Treatments
The treatment for seizures may include antiepileptic medications, diet and vagus nerve stimulator. Medication
Any number of medications may be used to both prevent and treat seizures.
Primary spontaneous pneumothorax (PSP) has for many years been thought to be caused by "blebs" (small air-filled lesions just under the pleural surface), which were presumed to be more common in those classically at risk of pneumothorax (tall males) due to mechanical factors. In PSP, blebs can be found in 77% of cases, compared to 6% in the general population without a history of PSP. As these healthy subjects do not all develop a pneumothorax later, the hypothesis may not be sufficient to explain all episodes; furthermore, pneumothorax may recur even after surgical treatment of blebs. It has therefore been suggested that PSP may also be caused by areas of disruption (porosity) in the pleural layer, which are prone to rupture. Smoking may additionally lead to inflammation and obstruction of small airways, which account for the markedly increased risk of PSPs in smokers. Once air has stopped entering the pleural cavity, it is gradually reabsorbed.Tension pneumothorax occurs when the opening that allows air to enter the pleural space functions as a one-way valve, allowing more air to enter with every breath but none to escape. The body compensates by increasing the respiratory rate and tidal volume (size of each breath), worsening the problem. Unless corrected, hypoxia (decreased oxygen levels) and respiratory arrest eventually follow. Diagnosis
The symptoms of pneumothorax can be vague and inconclusive, especially in those with a small PSP; confirmation with medical imaging is usually required.