A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran.

ABSTRACT: Spinal muscular atrophy (SMA) is a disorder characterized by decreased motor function due to the muscle atrophy in the background of degenerated anterior horn cells and motor cells of lower cranial nerves nuclei. The most frequent form is inherited as an autosomal recessive trait resulting from mutations in the survival motor neuron gene (SMN-1). On the other hand, a rare variant of this condition, named progressive myoclonic epilepsy subtype (SMA-PME) occurs in the result of a mutation in N-acylsphingosine amidohydrolase-1 gene (ASAH-1). The latter gene is responsible for lysosomal acid-ceramidase production. SMA-PME has been characterized by a progressive muscle weakness from ages 3-7 years, accompanied by epilepsy, an intractable seizure, and sometimes sensorineural hearing loss. In thi

SUBMITTER: Shervin Badv R 

PROVIDER: S-EPMC6549484 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature