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Total 63 results found since Jan 2013.

Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India
This report expands the clinico-radiological presentation and to the best of our knowledge, is the first report of MICU-related MPXPS from India.
Source: Annals of Indian Academy of Neurology - January 25, 2023 Category: Neurology Authors: Debaleena Mukherjee Adreesh Mukherjee Subhadeep Gupta Souvik Dubey Alak Pandit Source Type: research

Muscle MRI-Based atrophy pattern recognition: Notable findings in a case of pathologically proven lipid storage myopathy
Ameya Patwardhan, Joydeep Mukherjee, Radhika Mhatre, Vivek Lanka, Ajay Asranna, Ravindu Tiwari, Neeharika Sriram, Karthik Kulanthaivelu, Anita Mahadevan, Subasree RamakrishnanAnnals of Indian Academy of Neurology 2022 25(6):1184-1187
Source: Annals of Indian Academy of Neurology - December 3, 2022 Category: Neurology Authors: Ameya Patwardhan Joydeep Mukherjee Radhika Mhatre Vivek Lanka Ajay Asranna Ravindu Tiwari Neeharika Sriram Karthik Kulanthaivelu Anita Mahadevan Subasree Ramakrishnan Source Type: research

MLASA-1: A rare cause of myopathy with sideroblastic anemia
Benazer Sait, Aakash C Chidambaram, RM Dinesh Babu, Krishnamoorthy Vidhyasagar, Joshua R Xavier, Benjamin SagayarajAnnals of Indian Academy of Neurology 2022 25(6):1202-1204
Source: Annals of Indian Academy of Neurology - December 3, 2022 Category: Neurology Authors: Benazer Sait Aakash C Chidambaram RM Dinesh Babu Krishnamoorthy Vidhyasagar Joshua R Xavier Benjamin Sagayaraj Source Type: research

BIN1 modulation in vivo rescues dynamin-related myopathy Medical Sciences
The mechanoenzyme dynamin 2 (DNM2) is crucial for intracellular organization and trafficking. DNM2 is mutated in dominant centronuclear myopathy (DNM2-CNM), a muscle disease characterized by defects in organelle positioning in myofibers. It remains unclear how the in vivo functions of DNM2 are regulated in muscle. Moreover, there is no therapy...
Source: Proceedings of the National Academy of Sciences - February 25, 2022 Category: Science Authors: Valentina Maria Lionello, Christine Kretz, Evelina Edelweiss, Corinne Crucifix, Raquel Gomez–Oca, Nadia Messaddeq, Suzie Buono, Pascale Koebel, Xenia Massana Munoz, Nadege Diedhiou, Belinda S. Cowling, Marc Bitoun, Jocelyn Laporte Tags: Medical Sciences Biological Sciences Source Type: research

SEPN1-related myopathy: The importance of diagnosis and challenges to management of CMD in resource poor settings
Siddhartha Gajam, Madhuri Maganthi, Ann Agnes Mathew, Suman RathAnnals of Indian Academy of Neurology 2021 24(6):955-956
Source: Annals of Indian Academy of Neurology - December 17, 2021 Category: Neurology Authors: Siddhartha Gajam Madhuri Maganthi Ann Agnes Mathew Suman Rath Source Type: research

28131 Hashimoto thyroiditis associated with unilateral Graves ophthalmopathy
We report a case of TAO presenting with unilateral periorbital edema in a patient with Hashimoto disease.
Source: Journal of the American Academy of Dermatology - August 8, 2021 Category: Dermatology Authors: Dianne Carrasquillo-Bonilla, Karina Cancel-Artau, Andrea Medina-Gonzalez, Rafael F. Martin-Garcia Source Type: research

Unabridged histoplasmosis myositis: Unsolved dissemination with diagnostic challenge
Gurparvesh S Goraya, Guneet Sidhu, Updesh Sidhu, Birinder S Paul, Gunchan PaulAnnals of Indian Academy of Neurology 2021 24(2):239-242 Histoplasmosis occurs predominantly in immunocompromised hosts and typically presents with mild constitutional symptoms, weight loss, weakness, fatigability, hepatosplenomegaly, and lymphadenopathy. The diagnosis is generally delayed and is based upon isolating the organism in blood cultures or by identifying intracellular organisms in tissues. Disseminated Histoplasmosis is well described in HIV patients but Histoplasmosis myositis is a rare manifestation and has not been reported in sero...
Source: Annals of Indian Academy of Neurology - April 28, 2021 Category: Neurology Authors: Gurparvesh S Goraya Guneet Sidhu Updesh Sidhu Birinder S Paul Gunchan Paul Source Type: research

Acute painful reversible steroid myopathy with IV methylprednisolone
Boby Varkey Maramattom, Hanna Angel MelethAnnals of Indian Academy of Neurology 2021 24(2):257-259
Source: Annals of Indian Academy of Neurology - April 28, 2021 Category: Neurology Authors: Boby Varkey Maramattom Hanna Angel Meleth Source Type: research

A novel variant of COL6A2 gene causing bethlem myopathy and evaluation of essential hypertension
M Gultekin Kutluk, Naz Kadem, Omer Bektas, Nadide Cemre Randa, Gökcen O Z Tuncer, Pelin Albayrak, Tuba Eminoglu, Serap Tiras TeberAnnals of Indian Academy of Neurology 2021 24(2):280-282
Source: Annals of Indian Academy of Neurology - April 28, 2021 Category: Neurology Authors: M Gultekin Kutluk Naz Kadem Omer Bektas Nadide Cemre Randa G & #246;kcen O Z Tuncer Pelin Albayrak Tuba Eminoglu Serap Tiras Teber Source Type: research

What is new in idiopathic inflammatory myopathies: Mechanisms and therapies
Satish V Khadilkar, Megha C DhamneAnnals of Indian Academy of Neurology 2020 23(4):458-467 Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of disorders that cause muscle weakness and also have extramuscular manifestations involving various organ systems; namely the lung, skin, heart, and joints. Previously classified broadly as dermatomyositis (DM) and polymyositis now the spectrum of the disease has evolved into more clinical subtypes. There are now five clinicoserological subtypes recognized worldwide DM, antisynthetase syndrome (AS), overlap myositis (OM), immune mediated necrotizing myopathy (IMNM)...
Source: Annals of Indian Academy of Neurology - August 20, 2020 Category: Neurology Authors: Satish V Khadilkar Megha C Dhamne Source Type: research

Regulation of myonuclear positioning and muscle function by the skeletal muscle-specific CIP protein Cell Biology
The appropriate arrangement of myonuclei within skeletal muscle myofibers is of critical importance for normal muscle function, and improper myonuclear localization has been linked to a variety of skeletal muscle diseases, such as centronuclear myopathy and muscular dystrophies. However, the molecules that govern myonuclear positioning remain elusive. Here, we report...
Source: Proceedings of the National Academy of Sciences - August 10, 2020 Category: Science Authors: Jianming Liu, Zhan-Peng Huang, Mao Nie, Gang Wang, William J. Silva, Qiumei Yang, Paula P. Freire, Xiaoyun Hu, Huaqun Chen, Zhongliang Deng, William T. Pu, Da-Zhi Wang Tags: Biological Sciences Source Type: research

Acute flaccid quadriplegic myopathy and encephalopathy with extensive muscle magnetic resonance imaging changes in thyroid storm
Boby Varkey Maramattom, Nibu Dominic, Surya JosephAnnals of Indian Academy of Neurology 2020 23(3):342-344 Thyroid storm (TS) is a rare hyperthyroidism associated multisystem decompensation and can mimic a systemic inflammatory response syndrome. It is diagnosed in the presence of fever with cardiovascular, central nervous system, and gastrointestinal complications. Only a few reports of acute flaccid quadriplegic thyrotoxic myopathy (TM) with TS have been reported. However, muscle magnetic resonance imaging (MRI) findings in TM have not been yet been reported. Our patient underwent muscle MRI and showed some unusual feat...
Source: Annals of Indian Academy of Neurology - June 9, 2020 Category: Neurology Authors: Boby Varkey Maramattom Nibu Dominic Surya Joseph Source Type: research

Systematic retrospective study of 64 patients with anti-Mi2 dermatomyositis: A classic skin rash with a necrotizing myositis and high risk of malignancy
To the Editor: Dermatomyositis (DM) is an autoimmune myopathy associated with the presence of a specific skin rash and characteristic morphologic features, including perifascicular pathology without myofiber necrosis. However, the clinical and morphologic spectrum of DM remains heterogeneous. It is now recognized  that DM-specific autoantibodies are useful in defining more homogeneous subsets of patients with DM.1 The anti-Mi2 antibody was discovered more than 40 years ago; nonetheless, few studies have described its phenotype, and these have included only a limited number of patients.
Source: Journal of the American Academy of Dermatology - March 31, 2020 Category: Dermatology Authors: Gr égoire Monseau, Océane Landon-Cardinal, Werner Stenzel, Yoland Schoindre, Kubéraka Mariampillai, Stéphane Barete, Clothilde Martel, Agathe Masseau, Alain Meyer, Benjamin Terrier, Sarah Guégan, Laurence Verneuil, Sylvain Audia, Cristian Bulai Livid Tags: Letter Source Type: research

A novel case of TIF1-gamma autoantibody positive dermatomyositis associated with a nonfunctional pancreatic neuroendocrine tumor
Introduction: Dermatomyositis (DM) is an idiopathic inflammatory myopathy that presents with proximal muscle weakness accompanied by a characteristic rash. The relationship between DM and malignancy is well established in the literature, with malignancy identified in approximately 25% of cases of DM. The most commonly associated malignancies are ovarian, lung, gastric, pancreatic and bladder adenocarcinomas. The presence of transcriptional intermediary factor 1- γ (TIF1-γ) autoantibodies in patients with DM is associated with higher rates of malignancy than those without the autoantibody.
Source: Journal of the American Academy of Dermatology - August 21, 2019 Category: Dermatology Source Type: research

Systemic capillary leak syndrome in dermatomyositis: A report of 2 cases
Systemic capillary leak syndrome (SCLS) is a rare, often fatal, condition characterized by hemoconcentration, hypoalbuminemia and hypotension. Its association with other disease entities remains unclear. In this case report, we describe two diagnosed cases of dermatomyositis, an idiopathic inflammatory myopathy, complicated with SCLS. The first case is of a 41-year-old, male and the second case is of a 61-year-old female. Both cases were admitted for the management of dermatomyositis and presented with characteristic cutaneous lesions of the condition, proximal muscle weakness, elevated muscle enzymes, positive ANA, abnorm...
Source: Journal of the American Academy of Dermatology - August 21, 2019 Category: Dermatology Source Type: research