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Total 442 results found since Jan 2013.

Nemaline Rod/Cap Myopathy Due to Novel Homozygous < em > MYPN < /em > Mutations: The First Report from South Asia and Comprehensive Literature Review
CONCLUSIONS: This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.PMID:34184449 | PMC:PMC8242322 | DOI:10.3988/jcn.2021.17.3.409
Source: Journal of Clinical Neurology - June 29, 2021 Category: Neurology Authors: Kiran Polavarapu Mainak Bardhan Ram Murthy Anjanappa Seena Vengalil Veeramani Preethish-Kumar Leena Shingavi Tanushree Chawla Saraswati Nashi Dhaarini Mohan Gautham Arunachal Thenral S Geetha Vedam Ramprasad Atchayaram Nalini Source Type: research

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy
Conclusions: This study enriches the phenotypic spectrum of nemaline myopathy caused by NEB and KLHL40 variants and highlights the importance of detailed prenatal, neonatal, and infancy assessments of muscular weakness associated with complex systemic features. Variants of uncertain significance in genes associated with nemaline myopathy may be correlated with the phenotype. Early, multidisciplinary intervention can improve the outcome in patients with mild forms of nemaline myopathies. WES is essential for clarifying complex clinical phenotypes encountered in patients from consanguineous families. Targeted carrier screeni...
Source: Frontiers in Genetics - March 21, 2023 Category: Genetics & Stem Cells Source Type: research

Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling
We report a case of a 21-year-old student who developed bilateral lower limb weakness, pain, and swelling diagnosed with mitochondrial myopathy on muscle biopsy. Initial laboratory tests revealed elevated creatinine kinase, brain natriuretic peptide, troponin, myoglobin, and lactic acid and reduced serum bicarbonate. Cardiac workup revealed systolic heart failure with a reduced ejection fraction. Endomyocardial biopsy revealed punctate foci of lymphocytic myocarditis. However, cardiac magnetic resonance imaging did not reveal either myocarditis or an infiltrative cardiac disease. An extensive autoimmune and infection work-...
Source: Primary Care - May 10, 2023 Category: Primary Care Authors: Kavya Bharathidasan Abbie Evans Fabiana Monte Alegre Olmos Fernandez Arunee Tansrisook Motes Kenneth Nugent Source Type: research

Anti-SRP Myopathy with Sensorimotor Polyneuropathy: A Case Report
CONCLUSION: Anti-SRP myopathy can present with sensorimotor polyneuropathy. Thus, the possibility that the same pathological process affected the skeletal muscles and peripheral nerves should be considered.PMID:37723914
Source: Acta Neurologica Taiwanica - September 19, 2023 Category: Neurology Authors: Lei-Ying Huang Yi-Jen Peng Yueh-Feng Sung Source Type: research

Generalized Dilative Arteriopathy without Myopathy: A New Phenotype of Pompe Disease (P6.256)
Conclusion. This case demonstrates that LOPD may present as an isolated generalized dilative arteriopathy with repeated kidney and brain infarcts, and no myopathy. Pompe disease should be systematically screened in patients with generalized dilative arteriopathy.Disclosure: Dr. Echaniz-Laguna has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals, Inc. Dr. Bataillard has nothing to disclose. Dr. Quenardelle has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Echaniz-Laguna, A., Bataillard, M., Quenardelle, V. Tags: Cerebrovascular Disease and Interventional Neurology: Case Reports Source Type: research

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy
In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimotor polyneuropathy, and myopathy. We investigated recessive mutations in a Korean family with two individuals affected by IOSCA. Causative mutations were investigated using whole exome sequencing. Electrophysiological analyses and muscle and nerve biopsies were performed, along with magnetic resonance imaging (MRI) of the brain and lower extremities. Compound heterozygous mutations c.1460C>T and c.1485-1G>A in C10orf2 were identified as causative of IOSCA. Skeletal muscle showed mitochondrial DNA (mtDN...
Source: Neurogenetics - August 1, 2014 Category: Genetics & Stem Cells Source Type: research

Increased dosage of cyclosporine induces myopathy with increased seru creatine kinase in an elderly patient on chronic statin therapy
Summary What is known and objectiveThe concomitant administration of atorvastatin and cyclosporine has been shown to increase the serum concentration of 3‐hydroxy‐3‐methylglutaryl coenzyme A, which may be associated with the elevation of creatine kinase and an increased risk of myopathy. Our objective is to report on a case of statin‐induced myopathy associated with concomitant use of cyclosporine and other contributing factors. Case summaryAn 88‐year‐old Chinese male patient with comorbidities received polypharmacy treatment, including atorvastatin and cyclosporine. After the dosage of cyclosporine was increas...
Source: Journal of Clinical Pharmacy and Therapeutics - December 1, 2014 Category: Drugs & Pharmacology Authors: L. Mo, J. He, Q. Yue, B. Dong, X. Huang Tags: Case Report Source Type: research

Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement.
CONCLUSIONS: Our whole-body muscle MRI findings provide evidence for chronic progressive myopathy in hyperKPP patients. The reported data suggest that a selective pattern of muscle involvement-affecting the posterior compartment of the lower leg and the anterior thigh-is characteristic of chronic progressive myopathy in hyperKPP. PMID: 26256659 [PubMed - as supplied by publisher]
Source: Journal of Clinical Neurology - August 11, 2015 Category: Neurology Tags: J Clin Neurol Source Type: research

Axial myopathy: an overlooked feature of muscle diseases
This article provides an overview of the present knowledge on axial myopathy with the aim to increase awareness and spur interest among clinicians and researchers in the field.
Source: Brain - January 8, 2016 Category: Neurology Authors: Witting, N., Andersen, L. K., Vissing, J. Tags: Neuromuscular Disease Updates Source Type: research

G.P.58: The first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation
Vocal cord and pharyngeal weakness with distal myopathy (VCPDM) is a rare, chronic, non-inflammatory myopathy characterized by rimmed vacuoles and is identified in North American and Bulgarian families. Recently, a missense mutation in the gene encoding for Matrin-3 (MATR3) was reported as one of the causes of VCPDM. However, the pathophysiology underlying the myofiber degeneration remains an enigma. Here, we report the clinical, radiological, and electrophysiological features of the members of the first Asian family having VCPDM along with the missense mutation in the MATR3 gene: p.S85C (c.254C>G), which was exactly the s...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: T. Nishikami, S. Yamashita, N. Tawara, A. Mori, H. Hori, T. Hirahara, Y. Maeda, Y. Ando Source Type: research

Phenotype of matrin‐3–related distal myopathy in 16 German patients
ObjectiveTo characterize the phenotype of patients with distal myopathy with vocal cord and pharyngeal weakness due to the p.S85C mutation in the matrin‐3 gene (MATR3, Mendelian Inheritance in Man 164015). Recently, it has been suggested that patients with this mutation may suffer from familial amyotrophic lateral sclerosis. MethodsSixteen patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutation were characterized. ResultsPatients had a predominantly distal muscle weakness, most severely affecting ankle and wrist dorsiflexion. Relevant proximal and axial weakness was found in 6 a...
Source: Annals of Neurology - September 16, 2014 Category: Neurology Authors: Tobias J. Müller, Torsten Kraya, Gisela Stoltenburg‐Didinger, Frank Hanisch, Malte Kornhuber, Dietrich Stoevesandt, Jan Senderek, Joachim Weis, Petra Baum, Marcus Deschauer, Stephan Zierz Tags: Research Article Source Type: research

Clinicopathological features of sarcoidosis manifesting as generalized chronic myopathy
Abstract Although chronic myopathy has been reported to affect skeletal muscle in sarcoidosis, its clinicopathological features have not been fully elucidated. We characterized the clinical, histopathological, and prognostic features of eleven patients with sarcoidosis manifesting with chronically progressive, generalized myopathy that was confirmed with muscle biopsy. Generalized muscle weakness extending to the four extremities and trunk was the cardinal feature of these cases. Muscle atrophy was evident in nine patients, particularly in the lower limbs, whereas myalgia was reported in only two patients. Myopath...
Source: Journal of Neurology - February 26, 2015 Category: Neurology Source Type: research