Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran

Background: Lipid storage myopathies (LSMs) are rare diseases. The phenotype and genotype of lipid metabolism disorders are heterogeneous and divided into two major groups. Constant or progressive proximal and axial muscle weakness associated with or without metabolic crisis, is often seen in patien...

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Autores principales:	Yalda Nilipour, Parveneh Karimzadeh, Shahriar Nafissi, Mohammad Mahdi Taghdiri, Hedyeh Saneifard, Marjan Shakiba, Yalda Rahbarfar
Formato:	article
Lenguaje:	EN
Publicado:	Shahid Beheshti University of Medical Sciences 2020
Materias:	lipid storage myopathy iran muscle biopsy clinical Medicine R
Acceso en línea:	https://doaj.org/article/79fd93d0bafb4de7875b8c20b6637429
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spelling	oai:doaj.org-article:79fd93d0bafb4de7875b8c20b66374292021-11-16T10:50:32ZClinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran2383-18712383-209610.34172/icnj.2021.06https://doaj.org/article/79fd93d0bafb4de7875b8c20b66374292020-12-01T00:00:00Zhttps://journals.sbmu.ac.ir/neuroscience/article/view/33556/26387https://doaj.org/toc/2383-1871https://doaj.org/toc/2383-2096Background: Lipid storage myopathies (LSMs) are rare diseases. The phenotype and genotype of lipid metabolism disorders are heterogeneous and divided into two major groups. Constant or progressive proximal and axial muscle weakness associated with or without metabolic crisis, is often seen in patients with LSM such as primary carnitine deficiency (PCD) or multiple acyl-coenzyme a dehydrogenase deficiency disorder (MADD). On the other hand, rhabdomyolysis triggered by fasting, fever, or physical activity usually occurs in patients with disorders affecting intramitochondrial fatty acid transport and β-oxidation, such as carnitine palmitoyltransferase II deficiency (CPT2), mitochondrial trifunctional protein deficiency and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). Methods: In this cross-sectional study, we summarized the clinical profiles and muscle histology of 64 Iranian patients diagnosed with LSM by muscle biopsy. These patients were selected from 3000 patients referred for muscle biopsy to Toos and Mofid children’s hospitals during 2010 to 2016. Their affected siblings were also added to the study. Result: In our study 45.3% of the patients were men and 54.7% were women. Mean age of the patients was 27.05 years (SD: 14.26) and the mean age of onset of symptoms in these patients was 20.94 (SD: 14.25) years. Most patients (70.3%) had proximal weakness and no bulbar involvement. Only 9.3% of the patients had a positive family history. Conclusion: LSMs are not uncommon in Iran and their phenotype can mimic inflammatory myopathy or limb girdle muscular dystrophy. Overall the demographic and clinical features of LSMs in Iranian patients were similar to prior reports.Yalda NilipourParveneh KarimzadehShahriar NafissiMohammad Mahdi TaghdiriHedyeh SaneifardMarjan ShakibaYalda RahbarfarShahid Beheshti University of Medical Sciencesarticlelipid storage myopathyiranmuscle biopsyclinicalMedicineRENInternational Clinical Neuroscience Journal, Vol 8, Iss 1, Pp 26-29 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	lipid storage myopathy iran muscle biopsy clinical Medicine R
spellingShingle	lipid storage myopathy iran muscle biopsy clinical Medicine R Yalda Nilipour Parveneh Karimzadeh Shahriar Nafissi Mohammad Mahdi Taghdiri Hedyeh Saneifard Marjan Shakiba Yalda Rahbarfar Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran
description	Background: Lipid storage myopathies (LSMs) are rare diseases. The phenotype and genotype of lipid metabolism disorders are heterogeneous and divided into two major groups. Constant or progressive proximal and axial muscle weakness associated with or without metabolic crisis, is often seen in patients with LSM such as primary carnitine deficiency (PCD) or multiple acyl-coenzyme a dehydrogenase deficiency disorder (MADD). On the other hand, rhabdomyolysis triggered by fasting, fever, or physical activity usually occurs in patients with disorders affecting intramitochondrial fatty acid transport and β-oxidation, such as carnitine palmitoyltransferase II deficiency (CPT2), mitochondrial trifunctional protein deficiency and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). Methods: In this cross-sectional study, we summarized the clinical profiles and muscle histology of 64 Iranian patients diagnosed with LSM by muscle biopsy. These patients were selected from 3000 patients referred for muscle biopsy to Toos and Mofid children’s hospitals during 2010 to 2016. Their affected siblings were also added to the study. Result: In our study 45.3% of the patients were men and 54.7% were women. Mean age of the patients was 27.05 years (SD: 14.26) and the mean age of onset of symptoms in these patients was 20.94 (SD: 14.25) years. Most patients (70.3%) had proximal weakness and no bulbar involvement. Only 9.3% of the patients had a positive family history. Conclusion: LSMs are not uncommon in Iran and their phenotype can mimic inflammatory myopathy or limb girdle muscular dystrophy. Overall the demographic and clinical features of LSMs in Iranian patients were similar to prior reports.
format	article
author	Yalda Nilipour Parveneh Karimzadeh Shahriar Nafissi Mohammad Mahdi Taghdiri Hedyeh Saneifard Marjan Shakiba Yalda Rahbarfar
author_facet	Yalda Nilipour Parveneh Karimzadeh Shahriar Nafissi Mohammad Mahdi Taghdiri Hedyeh Saneifard Marjan Shakiba Yalda Rahbarfar
author_sort	Yalda Nilipour
title	Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran
title_short	Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran
title_full	Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran
title_fullStr	Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran
title_full_unstemmed	Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran
title_sort	clinical and pathological features of lipid storage myopathy; a retrospective study of a large group from iran
publisher	Shahid Beheshti University of Medical Sciences
publishDate	2020
url	https://doaj.org/article/79fd93d0bafb4de7875b8c20b6637429
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Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran

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