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.
Within a couple of years, a wheelchair is required for locomotion and within five to ten years, the person is confined to bed and is often tube fed. Valproic acid and zonisamide are first choice anticonvulsants, and the ketogenic diet may be helpful. An autosomal-recessive genetic defect is responsible, which has been tracked down to two genes. The EPM2A gene on chromosome 6q24 was discovered in 1998 and encodes for the protein laforin. It is responsible for 80% of cases. The EPM2B gene on chromosome 6p22.3 was discovered in 2003 and encodes for the protein malin. There may be a third gene of unknown locus. Neuronal ceroid lipofuscinoses
There are various forms of these disorders, each with their own genetic cause and geographical variation, which lead to accumulation of lipopigments (lipofuscin) in the bodys tissues and are inherited in an autosomal-recessive fashion. Onset and symptoms vary with the particular form, but death usually occurs within five to fifteen years. Type I sialidosis
This is an autosomal recessive disorder in which the body is deficient in α-neuraminidase. Myoclonic epilepsy and ataxia due to potassium (K+) channel mutation (MEAK)
MEAK is a form of progressive myoclonus epilepsy that typically begins between the ages of 3 and 15 years (the average of onset is 10 years). The first symptoms may include ataxia and myoclonus (unsteadiness and difficulty coordinating movements), along with generalized tonic-clonic ("grand mal") seizures. Individuals with MEAK typically do not experience developmental delays.