Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature

•SMA-PME is rare inherited disease with bi-allelic mutations in the ASAH1 gene.•SMA-PME characterized by progressive myoclonic epilepsy, proximal weakness.•A novel variant c.109C>T(p. Pro37Thr) was reported for SMA-PME in this study. Spinal muscular atrophy with progressive myoclonic epilepsy (SM...

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Published in:Neuromuscular disorders : NMD 2022-10, Vol.32 (10), p.806-810
Main Authors: Karimzadeh, Parvaneh, Najmabadi, Hossein, Lochmuller, Hanns, Babaee, Marzieh, Dehdahsi, Shima, Miryounesi, Mohammad, Amirsalari, Susan, Rayegani, Seyed Mansoor, Tonekaboni, Seyed Hassan
Format: Article
Language:English
Subjects:
ASAH1 gene
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)
Treatment
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Summary:•SMA-PME is rare inherited disease with bi-allelic mutations in the ASAH1 gene.•SMA-PME characterized by progressive myoclonic epilepsy, proximal weakness.•A novel variant c.109C>T(p. Pro37Thr) was reported for SMA-PME in this study. 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 study reports five patients from four different families affected by SMA-PME characterized by progressive myoclonic epilepsy, proximal weakness, and lower motor neuron disease, as proven by electrodiagnostic studies. Genetic analysis identified two different mutations in the ASAH1 (NM_177924.4) gene, a previously reported pathogenic variant, c.125C>T (p.Thr42Met), and a novel likely pathogenic variant c.109C>A (p.Pro37Thr). In addition to reporting a novel pathogenic variant in the ASAH1 gene causing SMA-PME disease, this study compares the signs, phenotypic, and genetic findings of the case series with previous reports and discusses some symptomatic treatments.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2022.08.002