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Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.
Neuromuscul Disord. 2017 Nov; 27(11):986-996.ND

Abstract

Fatty acid oxidation disorders presenting as primary myopathy is relatively rare and also diagnostically challenging. Its association with "dropped head syndrome" is reported till date in single cases of carnitine deficiency and multiple acyl CoA dehydrogenase deficiency (MADD).We studied nineteen cases of primary progressive myopathy confirmed to have fatty acid oxidation defects by Tandem Mass Spectrometry. The detailed clinical, muscle histopathology, tandem mass spectrometry and muscle magnetic resonance imaging (MRI) findings are presented here. The fatty acid oxidation defects identified were sub-grouped into: medium chain acyl CoA dehydrogenase deficiency (MCAD) = 4; very long chain acyl CoA dehydrogenase deficiency (VLCAD) = 7; MADD = 6; carnitine uptake defect and short chain acyl CoA dehydrogenase (SCAD) deficiency = 1 each. The age at onset for MCAD, VLCAD and MADD ranged from 11.5 to 15, 8 to 17 and 10 to 38 years respectively. The patients with carnitine uptake defect and SCAD had onset at 29 and 15 years of age. The dominant symptoms were exertion induced myalgia and progressive proximal limb weakness in all. 12/19 (63.2%) had classical dropped head syndrome. Ptosis and bulbar weakness were present in a few cases. This study emphasizes that fatty acid oxidation disorders presenting as primary myopathy are probably under diagnosed and should be entertained in the differential diagnosis of acute or chronic limb girdle syndromes. Hitherto, unreported we describe "dropped head syndrome" as a prominent phenomenon in MCAD and VLCAD. The presence of ptosis and bulbar weakness in fatty acid oxidation defects expands the clinical spectrum.

Authors+Show Affiliations

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India; Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India; Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.Department of Neuro Imaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India. Electronic address: atchayaramnalini@yahoo.co.in.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28927828

Citation

Vengalil, Seena, et al. "Fatty Acid Oxidation Defects Presenting as Primary Myopathy and Prominent Dropped Head Syndrome." Neuromuscular Disorders : NMD, vol. 27, no. 11, 2017, pp. 986-996.
Vengalil S, Preethish-Kumar V, Polavarapu K, et al. Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome. Neuromuscul Disord. 2017;27(11):986-996.
Vengalil, S., Preethish-Kumar, V., Polavarapu, K., Christopher, R., Gayathri, N., Natarajan, A., Manjunath, M., Nashi, S., Prasad, C., & Nalini, A. (2017). Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome. Neuromuscular Disorders : NMD, 27(11), 986-996. https://doi.org/10.1016/j.nmd.2017.08.004
Vengalil S, et al. Fatty Acid Oxidation Defects Presenting as Primary Myopathy and Prominent Dropped Head Syndrome. Neuromuscul Disord. 2017;27(11):986-996. PubMed PMID: 28927828.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome. AU - Vengalil,Seena, AU - Preethish-Kumar,Veeramani, AU - Polavarapu,Kiran, AU - Christopher,Rita, AU - Gayathri,Narayanappa, AU - Natarajan,Archana, AU - Manjunath,Mahadevappa, AU - Nashi,Saraswati, AU - Prasad,Chandrajit, AU - Nalini,Atchayaram, Y1 - 2017/08/24/ PY - 2017/05/19/received PY - 2017/07/11/revised PY - 2017/08/11/accepted PY - 2017/9/21/pubmed PY - 2018/6/12/medline PY - 2017/9/21/entrez KW - Dropped head syndrome KW - Fatty acid oxidation KW - Metabolic myopathy KW - Primary myopathy KW - Tandem mass spectrometry SP - 986 EP - 996 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 27 IS - 11 N2 - Fatty acid oxidation disorders presenting as primary myopathy is relatively rare and also diagnostically challenging. Its association with "dropped head syndrome" is reported till date in single cases of carnitine deficiency and multiple acyl CoA dehydrogenase deficiency (MADD).We studied nineteen cases of primary progressive myopathy confirmed to have fatty acid oxidation defects by Tandem Mass Spectrometry. The detailed clinical, muscle histopathology, tandem mass spectrometry and muscle magnetic resonance imaging (MRI) findings are presented here. The fatty acid oxidation defects identified were sub-grouped into: medium chain acyl CoA dehydrogenase deficiency (MCAD) = 4; very long chain acyl CoA dehydrogenase deficiency (VLCAD) = 7; MADD = 6; carnitine uptake defect and short chain acyl CoA dehydrogenase (SCAD) deficiency = 1 each. The age at onset for MCAD, VLCAD and MADD ranged from 11.5 to 15, 8 to 17 and 10 to 38 years respectively. The patients with carnitine uptake defect and SCAD had onset at 29 and 15 years of age. The dominant symptoms were exertion induced myalgia and progressive proximal limb weakness in all. 12/19 (63.2%) had classical dropped head syndrome. Ptosis and bulbar weakness were present in a few cases. This study emphasizes that fatty acid oxidation disorders presenting as primary myopathy are probably under diagnosed and should be entertained in the differential diagnosis of acute or chronic limb girdle syndromes. Hitherto, unreported we describe "dropped head syndrome" as a prominent phenomenon in MCAD and VLCAD. The presence of ptosis and bulbar weakness in fatty acid oxidation defects expands the clinical spectrum. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/28927828/Fatty_acid_oxidation_defects_presenting_as_primary_myopathy_and_prominent_dropped_head_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(17)30496-0 DB - PRIME DP - Unbound Medicine ER -