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Total 63 results found since Jan 2013.

Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice Physiology
Mutations in the gene encoding the phosphoinositide 3-phosphatase myotubularin (MTM1) are responsible for a pediatric disease of skeletal muscle named myotubular myopathy (XLMTM). Muscle fibers from MTM1-deficient mice present defects in excitation–contraction (EC) coupling likely responsible for the disease-associated fatal muscle weakness. However, the mechanism leading to EC coupling failure...
Source: Proceedings of the National Academy of Sciences - December 12, 2016 Category: Science Authors: Candice Kutchukian, Mirella Lo Scrudato, Yves Tourneur, Karine Poulard, Alban Vignaud, Christine Berthier, Bruno Allard, Michael W. Lawlor, Ana Buj-Bello, Vincent Jacquemond Tags: Biological Sciences Source Type: research

A study of acute muscle dysfunction with particular reference to dengue myopathy
Conclusion: Dengue infection and hypokalemia due to various causes are the most common causes of acute myopathy and are associated with rapid and complete recovery within 1 month. Shorter duration of illness, higher MRC sum score, better disability status at presentation, lower serum CK correlate with better outcome. Biopsy was decisive in <20% cases; hence, it is not primary investigation in acute myopathy.
Source: Annals of Indian Academy of Neurology - February 8, 2017 Category: Neurology Authors: Rajesh Verma Vikram V Holla Vijay Kumar Amita Jain Nuzhat Husain Kiran Preet Malhotra Ravindra Kumar Garg Hardeep Singh Malhotra Praveen Kumar Sharma Neeraj Kumar Source Type: research

Statins’ effect on plasma levels of Coenzyme Q10 and improvement in myopathy with supplementation
ConclusionsEvidence from this review suggests that studies showed a significant relationship between statin intake and decreased serum levels of CoQ10. A few studies showed a benefit in symptoms of myalgia or improvement of serum levels of CoQ10 with supplementation. One study showed no benefit of CoQ10 supplementation when taken with statins. There were no risks of supplementation reported in any of the studies. Implications for PracticeCoQ10 supplementation might benefit those patients suffering from statin‐induced myopathy as evidenced by the results of these studies. Supplementation of CoQ10 at a dose of between 30 a...
Source: Journal of the American Academy of Nurse Practitioners - July 12, 2013 Category: Nursing Authors: Nate Littlefield, Renea L. Beckstrand, Karlen E. Luthy Tags: REVIEW Source Type: research

Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis
Aralikatte Onkarappa Saroja, Karkal Ravishankar Naik, Atcharayam Nalini, Narayanappa GayathriAnnals of Indian Academy of Neurology 2013 16(4):712-715Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI. Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal hyperextensibility, and follicular hyperkeratosis. Three patients from a single family were diagnosed to have Bethlem myopathy based on European Neuromuscular Centre Bethlem Consorti...
Source: Annals of Indian Academy of Neurology - October 25, 2013 Category: Neurology Authors: Aralikatte Onkarappa SarojaKarkal Ravishankar NaikAtcharayam NaliniNarayanappa Gayathri Source Type: research

Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature
We report seven patients of HIBM from four families in North India. Methods and Results: Seven patients from four different families were diagnosed to have HIBM. There was no consanguinity in any of the families. While one patient had two affected siblings, another had one affected siblings and the family history was noncontributory in two patients. Two of the siblings were available for examination and confirmed clinically to be suffering from HIBM. Among the seven patients, only one was still ambulatory at the time of diagnosis. Discussion: This is the first case report of occurrence of HIBM in North Indian population. D...
Source: Annals of Indian Academy of Neurology - February 2, 2016 Category: Neurology Authors: Biplab DasManoj Kumar GoyalSanat Ramchandra BhatkarPulikottil Wilson VinnyManish ModiVivek LalN GayathriAnitha MahadevanBishan Dass Radotra Source Type: research

Necrotizing autoimmune myopathy: Clinicopathologic study from a single tertiary care centre
Conclusion: Necrotizing myopathy is a new addition to the spectrum of IIM. Clinicopathologic correlation is important for appropriate diagnosis. It is found to be refractory to corticosteroids monotherapy. The course of illness is not uniform, and in some patients, there can be rapid worsening with mortality.
Source: Annals of Indian Academy of Neurology - March 29, 2018 Category: Neurology Authors: Sobiya Mahnaz Ayesha AK Meena Navatha Vangala Liza Rajasekhar Subhash Kaul Rupam Borgahain Megha S Uppin Source Type: research

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

A case of congenital myopathy masquerading as paroxysmal dyskinesia
Harsh Patel, Biswaroop Chakrabarty, Sheffali Gulati, Mehar C Sharma, Lokesh SainiAnnals of Indian Academy of Neurology 2014 17(4):441-443Gastroesophageal reflux (GER) disease is a significant comorbidity of neuromuscular disorders. It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. These were initially diagnosed as seizures and he was started on multiple antiepileptics which did not show any response. After a normal video electroencephalogram (VEEG) was documented,...
Source: Annals of Indian Academy of Neurology - November 5, 2014 Category: Neurology Authors: Harsh PatelBiswaroop ChakrabartySheffali GulatiMehar C SharmaLokesh Saini Source Type: research

Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy Physiology
McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS) by distinct mechanisms: the former by restricting oxidative substrate availability caused by blocked glycogen breakdown, the latter because of intrinsic respiratory chain defects. We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal,...
Source: Proceedings of the National Academy of Sciences - August 1, 2017 Category: Science Authors: Nigel F. Delaney, Rohit Sharma, Laura Tadvalkar, Clary B. Clish, Ronald G. Haller, Vamsi K. Mootha Tags: Biological Sciences Source Type: research

Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member Medical Sciences
Myosin is a molecular motor indispensable for body movement and heart contractility. Apart from pure cardiomyopathy, mutations in MYH7 encoding slow/β-cardiac myosin heavy chain also cause skeletal muscle disease with or without cardiac involvement. Mutations within the α-helical rod domain of MYH7 are mainly associated with Laing distal myopathy. To...
Source: Proceedings of the National Academy of Sciences - July 10, 2018 Category: Science Authors: Martin Dahl–Halvarsson, Montse Olive, Malgorzata Pokrzywa, Katarina Eȷeskar, Ruth H. Palmer, Anne Elisabeth Uv, Homa Taȷsharghi Tags: PNAS Plus Source Type: research

Occam's Razor or Hickam's Dictum: A Case of Myopathy Double Trouble.
Abstract PMID: 31628745 [PubMed - in process]
Source: Annals of the Academy of Medicine, Singapore - July 31, 2019 Category: General Medicine Authors: Chen Z, Saini M, Jan K, Chai JY Tags: Ann Acad Med Singapore 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

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

Myopathies of endocrine disorders: A prospective clinical and biochemical study
Conclusion: We found varied clinical presentations of endocrine myopathies. All the patients with neuromuscular complaints should be investigated for endocrine causes because significant number of them recovers fully with specific treatment.
Source: Annals of Indian Academy of Neurology - August 12, 2014 Category: Neurology Authors: Vikas SharmaPapori BorahLakshya J BasumataryMarami DasMunindra GoswamiAshok K Kayal Source Type: research

Coexistence of central nucleus, cores, and rods: Diagnostic relevance
Conclusion: Identification of cases with overlap of pathological features has diagnostic relevance.
Source: Annals of Indian Academy of Neurology - May 11, 2016 Category: Neurology Authors: Sathiyabama DhinakaranRashmi Santhosh KumarRavindra ThakkarGayathri Narayanappa Source Type: research