The initial sign of the proband was considered as epilepsy, and the treatment of carbamazepine brought about some improvement on the myoclonia
. However, in the review of the proband's course of epilepsy, he experienced myoclonic episodes with impairment of consciousness only at one side of the limbs.
In a neurological examination, pathological findings such as myoclonia
and hyperactive reflexes may be detected.
During the following days urine output increased, but his level of consciousness decreased and he developed myoclonia
. Due to accumulation of carbon dioxide he was transferred to the ICU, where intubation and mechanical ventilation were initiated.
The epileptic seizures were confirmed with observations of behavioral changes, including wet-dog shakes, paw tremors, and facial myoclonia
, under a freely moving and conscious state and epileptiform discharges on EEG recordings.
Besides characteristic symptoms (including nuchal rigidity, headache, fever, and vomiting), cerebral seizures, myoclonia
, ataxia, petechiae, and stomatitis were also mentioned for some patients tested for the new variant C1-like strains described here.
The main clinical presentations involving central nervous system tissues are ataxia, myoclonia
, psychomotor retardation, psychomotor regression, dystonia , muscle weakness, intolerance to physical exercise, sensorineural hearing loss, movement coordination issues, seizures, learning disabilities, optic atrophy, pigmentary retinopathy, ophthalmoplegia, cardiomyopathy, diabetes, autism, growth atrophy, peripheral neuropathy, dementia, and multiple lipomas, in addition to frequent episodes of respiratory issues .
From the second year of life on, the patient's seizures were mostly episodes of absence with eyelid myoclonia
and occasional generalized tonic-clonic seizures.
These sudden muscle contractions are called "hypnic myoclonia
Absences occur not only in Childhood Absence Epilepsy were it is the only seizure type of the syndrome, but occur in other types of of idiopathic not localisaton related epilepsy syndromes, like Juvenile Absence Epilepsy (JAE), Juvenile Myoclonic epilepsy (JME) and Eyelid Myoclonia
with Absences (Jeavons syndrome).
In 54.2% of the patients, myoclonia
were in remission for a mean duration of 8.4 +7.7 years .
After KA administration, all rats developed epileptic seizures, which were judged by wet dog shakes, paw tremors, and facial myoclonia
. Moreover, each type of seizure behaviors had its own characteristic EEG activity (Fig.