Biography
Biography: Mohammed Saadah
Abstract
Purpose Progressive myoclonic epilepsy type one, is a neurodegenerative disorder characterized by action and stimulus sensitive myoclonus, tonic clonic seizures, progressive cerebellar ataxia, preserved cognition and poor outcome. The authors report clinical, neurophysiological, radiological and genetic findings of anEmirati family with five affected siblings and review literature. Methods All data concerning familial and clinical history, neurologic examination, laboratory tests, electroencephalogram, brain imaging, and DNA analysis were examined. Results Genetic testing confirmed the diagnosis of autosomal recessive progressive myoclonic epilepsy type 1 (EPM1) in two males and three females. Median age of onset was three years. Action or stimulus sensitive myoclonus and generalized seizures were recorded in 100%, at median age of onset of 3 and 4 years respectively. Multi segmental myoclonus and generalized status myoclonicusobserved in 80%. Dysarthria and ataxia developed in 100%. Vitamin D deficiency and recurrent viral infections noticed in100%. Cognitive, learning and motor dysfunctions involved100%. Sphincters were affected in 60%. Abnormal EEG recorded in 100%. Generalized brain atrophy accumulated in 60%. Phenytoin and carbamazepine used in 60% with worsening effect. Valproate and leviteracetam used in 100% with improving effect. Conclusions This is the first reported family of EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus,and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier in onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.