Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome

摘要

Highlights ? First study to report occurrence of dropped head syndrome in MCAD and VLCAD. ? Hitherto unreported, presence of ptosis and bulbar weakness in VLCAD. ? Compilation of FAO disorders presenting as primary myopathy. ? Description of muscle MRI findings in FAO. 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.