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A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran
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 muta...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549484/ https://www.ncbi.nlm.nih.gov/pubmed/31213928 http://dx.doi.org/10.2147/IMCRJ.S202046 |
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author | Shervin Badv, Reza Nilipour, Yalda Rahimi-Dehgolan, Shahram Rashidi-Nezhad, Ali Ghahvechi Akbari, Masood |
author_facet | Shervin Badv, Reza Nilipour, Yalda Rahimi-Dehgolan, Shahram Rashidi-Nezhad, Ali Ghahvechi Akbari, Masood |
author_sort | Shervin Badv, Reza |
collection | PubMed |
description | 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 this report, we have presented a 15-year old female patient with SMA-PME that was attended to neurology clinic for a new onset tremor, seizure and proximal weakness in all limbs. We identified a homozygous mutation in exon II on her ASAH-1 gene [c.173C>T (p. Thr58Met)]. Also, a modest reduction was found in ceramidase-activity. As was expected patient`s seizures did not respond to conventional therapies. |
format | Online Article Text |
id | pubmed-6549484 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-65494842019-06-18 A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran Shervin Badv, Reza Nilipour, Yalda Rahimi-Dehgolan, Shahram Rashidi-Nezhad, Ali Ghahvechi Akbari, Masood Int Med Case Rep J Case Report 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 this report, we have presented a 15-year old female patient with SMA-PME that was attended to neurology clinic for a new onset tremor, seizure and proximal weakness in all limbs. We identified a homozygous mutation in exon II on her ASAH-1 gene [c.173C>T (p. Thr58Met)]. Also, a modest reduction was found in ceramidase-activity. As was expected patient`s seizures did not respond to conventional therapies. Dove 2019-05-30 /pmc/articles/PMC6549484/ /pubmed/31213928 http://dx.doi.org/10.2147/IMCRJ.S202046 Text en © 2019 Shervin Badv et al. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Case Report Shervin Badv, Reza Nilipour, Yalda Rahimi-Dehgolan, Shahram Rashidi-Nezhad, Ali Ghahvechi Akbari, Masood A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran |
title | A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran |
title_full | A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran |
title_fullStr | A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran |
title_full_unstemmed | A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran |
title_short | A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran |
title_sort | novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from iran |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549484/ https://www.ncbi.nlm.nih.gov/pubmed/31213928 http://dx.doi.org/10.2147/IMCRJ.S202046 |
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