Therefore, diagnosis is best made using a combination of different tools like signs and symptoms, age of onset, EEG, gene testing, enzyme measurements, and biopsy of skin and muscle. Differential diagnosis
The main component setting PME apart from other forms of epilepsy is progressive deterioration and resistance to treatment. Therefore, in the early stages of PME the symptoms and EEG may appear like Generalized epilepsy, Juvenile myoclonic epilepsy, benign childhood myoclonic epilepsy, and Huntingtons disease. It is crucial for ensure initial treatment is appropriate to measure how the condition progresses. Incorrect treatment can also result in wrong PME diagnosis. Management
The is no cure for PME. Efforts are instead placed in managing the symptoms, specifically the myoclonus and seizures as these can cause major harm to the individual. However, treating the symptoms with antiepileptic drugs can be difficult because PME individuals can become resistant. Some antiepileptic drugs used in treatment are valproic acid, benzodiazepines, phehobarbital, piracetam, zonisamide, clonazepam, and levetiracetam. It is important to note that some antiepileptic drugs can worsen the symptoms, like vigabatrin, carbamazepine, phenytoin, and gabapentin. Clonazepam is currently the only drug approved by the FDA for monotherapy treatment of myoclonic seizures. Other treatments that have been used in PME patients are deep brain stimulation, vagus nerve stimulation , and diet but they have not been shown to improve seizures. Prognosis
The prognosis of PME is ultimately dependent on the type of PME. In Lafora body disease the neurological deterioration progresses until resulting in a vegetative state and death within 10 years of diagnosis.
Blepharospasm is any abnormal contraction of the orbicularis oculi muscle. The condition should be distinguished from the more common, and milder, involuntary quivering of an eyelid, known as myokymia, or fasciculation. In most cases, blepharospasm symptoms last for a few days and then disappear without treatment, but in some cases the twitching is chronic and persistent, causing life-long challenges. In these cases, the symptoms are often severe enough to result in functional blindness. The persons eyelids feel like they are clamping shut and will not open without great effort. People have normal eyes, but for periods of time are effectively blind due to their inability to open their eyelids. In contrast, the reflex blepharospasm is due to any pain in and around the eye. It is of two types: essential and reflex blepharospasm. The benign essential blepharospasm (BEB) is a focal dystonia—a neurological movement disorder involving involuntary and sustained contractions of the muscles around the eyes. The term essential indicates that the cause is unknown, but fatigue, stress, or an irritant are possible contributing factors. Blepharospasm is sometimes part of benign fasciculation syndrome. Although there is no cure, botulinum toxin injections may help temporarily. A surgical procedure known as myectomy may also be useful. BEB is a fairly rare disease, affecting only one in every 20,000 people in the United States. The word is from Greek: βλέφαρον / blepharon, eyelid, and σπασμός / spasmos, spasm, an uncontrolled muscle contraction.