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Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency.
Am J Phys Med Rehabil. 2020 06; 99(6):e71-e74.AJ

Abstract

Multiple acyl-CoA dehydrogenase deficiency is a rare autosomal recessive inborn error of metabolism. The late-onset multiple acyl-CoA dehydrogenase deficiency is frequently caused by mutations in ETFDH gene. Because of its clinical heterogeneity, diagnosis and treatment of late-onset multiple acyl-CoA dehydrogenase deficiency are often delayed. The authors described a previously healthy 40-yr-old Thai woman presenting with subacute severe weakness of bulbar-limb muscles and elevated serum creatine kinase. The authors emphasized the importance of needle EMG and prompt muscle histopathological evaluation, which rapidly led to the diagnosis and riboflavin therapy, resulting in a dramatic and rapid improvement before genetic study disclosed mutation in ETFDH gene.

Authors+Show Affiliations

From the Division of Neurology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand (MS, JA, NP); King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand (MS, JA, NP, SJ); and Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand (SJ).No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

31136308

Citation

Santananukarn, Manasawan, et al. "Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency." American Journal of Physical Medicine & Rehabilitation, vol. 99, no. 6, 2020, pp. e71-e74.
Santananukarn M, Amornvit J, Pasutharnchat N, et al. Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency. Am J Phys Med Rehabil. 2020;99(6):e71-e74.
Santananukarn, M., Amornvit, J., Pasutharnchat, N., & Jongpiputvanich, S. (2020). Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency. American Journal of Physical Medicine & Rehabilitation, 99(6), e71-e74. https://doi.org/10.1097/PHM.0000000000001230
Santananukarn M, et al. Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency. Am J Phys Med Rehabil. 2020;99(6):e71-e74. PubMed PMID: 31136308.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency. AU - Santananukarn,Manasawan, AU - Amornvit,Jakkrit, AU - Pasutharnchat,Nath, AU - Jongpiputvanich,Sungkom, PY - 2019/5/29/pubmed PY - 2020/7/24/medline PY - 2019/5/29/entrez SP - e71 EP - e74 JF - American journal of physical medicine & rehabilitation JO - Am J Phys Med Rehabil VL - 99 IS - 6 N2 - Multiple acyl-CoA dehydrogenase deficiency is a rare autosomal recessive inborn error of metabolism. The late-onset multiple acyl-CoA dehydrogenase deficiency is frequently caused by mutations in ETFDH gene. Because of its clinical heterogeneity, diagnosis and treatment of late-onset multiple acyl-CoA dehydrogenase deficiency are often delayed. The authors described a previously healthy 40-yr-old Thai woman presenting with subacute severe weakness of bulbar-limb muscles and elevated serum creatine kinase. The authors emphasized the importance of needle EMG and prompt muscle histopathological evaluation, which rapidly led to the diagnosis and riboflavin therapy, resulting in a dramatic and rapid improvement before genetic study disclosed mutation in ETFDH gene. SN - 1537-7385 UR - https://www.unboundmedicine.com/medline/citation/31136308/Needle_EMG_a_Jigsaw_to_Disclose_Lipid_Storage_Myopathy_Due_to_Multiple_Acyl_CoA_Dehydrogenase_Deficiency_ L2 - https://doi.org/10.1097/PHM.0000000000001230 DB - PRIME DP - Unbound Medicine ER -