Mutation spectrum of primary lipid storage myopathies Seena Vengalil1, Kiran Polavarapu1, Veeramani Preethish-Kumar1, Saraswati Nashi1, Gautham Arunachal2, Tanushree Chawla1, Mainak Bardhan1, Dhaarini Mohan3, Rita Christopher4, Nandeesh Bevinahalli5, Karthik Kulanthaivelu6, Ichizo Nishino7, Mohammad Faruq8, Atchayaram Nalini1


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Mutation spectrum of primary lipid storage myopathies Seena Vengalil¹, Kiran Polavarapu¹, Veeramani Preethish-Kumar¹, Saraswati Nashi¹, Gautham Arunachal², Tanushree Chawla¹, Mainak Bardhan¹, Dhaarini Mohan³, Rita Christopher⁴, Nandeesh Bevinahalli⁵, Karthik Kulanthaivelu⁶, Ichizo Nishino⁷, Mohammad Faruq⁸, Atchayaram Nalini¹ ¹ Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India ² Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India ³ Department of Neurology, Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India ⁴ Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India ⁵ Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India ⁶ Department of Neuroimaging and Interventional Neuroradiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India ⁷ Department of Neuromuscular Research, National Centre of Neurology and Psychiatry, Kodaira, Tokyo, Japan ⁸ Department of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, India Correspondence Address: Atchayaram Nalini, Professor of Neurology, Neuromuscular Specialist, Department of Neurology, Neuroscience Faculty Center, National Institute of Mental Health and Neurosciences, Bengaluru - 560 029, Karnataka India Source of Support: None, Conflict of Interest: None DOI: 10.4103/aian.aian_333_21

Background: Lipid storage myopathies (LSM) constitute an important group of treatable myopathies. Genetic testing is essential for confirming the diagnosis and also helps in explaining phenotypic heterogeneity. The objective of this study was to describe the clinical features and genetic spectrum of LSM seen in a quaternary referral center in India. Methods: Eleven cases of suspected LSM underwent clinical, biochemical, histopathological and genetic evaluation. Tandem Mass Spectrometry and clinical exome sequencing with Sanger validation were performed. Results: All patients had exertion induced myalgia and either progressive or episodic limb girdle muscle weakness (LGMW). The age of onset ranged 10 to 31 years (mean- 21 ± 6.7y), age at presentation- 14 to 49 years (mean- 26.5 ± 9.5y). Mutations identified: ETFDH = 5, CPT2 = 3, FLAD1 = 1, ACADVL = 1, PNPLA2 = 1. Dropped head syndrome was seen in two patients with ETFDH mutations. Bulbar symptoms and Beevor's sign were noted in a patient with FLAD1 variant. Novel variants were identified in seven patients. Conclusions: This is the first report on the genetic spectrum of LSM from India. LSM should be considered in patients with exertion induced myalgias, LGMW, cranial nerve involvement or dropped head syndrome. Genetic testing is essential for identification of these treatable disorders.

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    -  Vengalil S
    -  Polavarapu K
    -  Preethish-Kumar V
    -  Nashi S
    -  Arunachal G
    -  Chawla T
    -  Bardhan M
    -  Mohan D
    -  Christopher R
    -  Bevinahalli N
    -  Kulanthaivelu K
    -  Nishino I
    -  Faruq M
    -  Nalini A

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