Article
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Neuromuscular disorders : NMD - 1 Oct 2022
Karimzadeh Parvaneh, Najmabadi Hossein, Lochmuller Hanns, Babaee Marzieh, Dehdahsi Shima, Miryounesi Mohammad, Amirsalari Susan, Rayegani Seyed Mansoor, Tonekaboni Seyed Hassan
Abstract excerpt
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare inherited autosomal recessive disease due to bi-allelic mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, accompanied by epilepsy, intractable seizures, and sometimes sensorineural hearing loss. To the best of our knowledge, 47 cases have been reported. The present...
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