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Total 174 results found since Jan 2013.

Anti-signal recognition particle antibody in patients without inflammatory myopathy: a survey of 6180 patients with connective tissue diseases.
CONCLUSIONS: The prevalence of anti-SRP antibody was 0.5% in a cohort of Japanese patients with CTD, and one-third of them did not have inflammatory myopathy. Sera from patients with inflammatory myopathy recognized SRP54 more strongly than in those without myopathy. PMID: 26312949 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Rheumatology - August 27, 2015 Category: Rheumatology Authors: Hanaoka H, Kaneko Y, Suzuki S, Takada T, Hirakata M, Takeuchi T, Kuwana M Tags: Scand J Rheumatol Source Type: research

Proton Pump Inhibitors: Risk for Myopathy?
CONCLUSION: A limited body of published data suggests that PPI use has been associated with myopathy-like symptoms without long-term effects following discontinuation. Although myopathy is a rare adverse effect observed with PPIs, it can be a serious side effect to be considered when starting a patient on acid suppression therapy. PMID: 27539734 [PubMed - as supplied by publisher]
Source: The Annals of Pharmacotherapy - August 17, 2016 Category: Drugs & Pharmacology Authors: Colmenares EW, Pappas AL Tags: Ann Pharmacother Source Type: research

G.P.267: Nebulin-associated myopathy: New genetic and pathologic presentations
This study represents the disease associated with novel NEB mutations marked by the presence of additional pathological features, as well as nemaline rods. Although mixed pathology has been already reported in core-rod myopathy with NEB mutations, muscle pathology in these patients is more characteristic, and clinical manifestation is much milder compared with the previous ones. This report suggests the expanded clinical and pathological spectrum of nebulin-associated myopathy with new genetic and pathologic features. Further, next genome sequencing might be helpful for searching mutations in big, huge-sized genes, such as NEB.
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y.E. Park, S.H. Park, J.M. Lee, J.H. Shin, B.R. Kang, C.H. Lee, D.S. Kim Source Type: research

Hereditary Inclusion Body Myopathy without Paget Disease and Frontotemporal Dementia Associated with Valosin-Containing Protein Mutation: A Case Report (P5.074)
CONCLUSIONS: The aforementioned VCP gene mutation is associated with variable IBMPFD phenotypes, which can differ even amongst family members. Familial IBMPFD and VCP testing should be considered in atypical sporadic IBM-like patients, whose weakness is associated with extramuscular features, and those with family history of myopathy.Disclosure: Dr. Pack has nothing to disclose. Dr. Walsh has nothing to disclose. Dr. Rakocevic has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Pack, K., Walsh, A., Rakocevic, G. Tags: Hereditary Muscle Diseases: Genetics and Phenotype Source Type: research

Pattern analysis in Korean patients with distal myopathy using lower-limb MRI
Distal myopathy is a heterogeneous group of genetic muscle diseases characterized by predominant distal muscle weakness. Recently lower-limb MRI has been proven useful in pattern recognition and differential diagnosis of myopathy. Therefore, we aimed to investigate the usefulness of lower-limb MRI in Korean patients with distal myopathy. We retrospectively analyzed muscle MRI scans of 13 Korean patients with distal myopathy. They consisted of nine patients with dysferlinopathy and four patients with GNE myopathy in the pattern of muscle impairment between two groups.
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: H. Park, J. Lee, S. Na, K. Park, Y. Choi Source Type: research

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Authors: Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A Abstract Myofibrillar myopathies (MFM) are mostly adult-onset diseases characterized by progressive morphological alterations of the muscle fibers beginning in the Z-disk and the presence of protein aggregates in the sarcoplasm. They are mostly caused by mutations in different genes that encode Z-disk proteins, including DES, CRYAB, LDB3, MYOT, FLNC and BAG3. A ...
Source: Revue Neurologique - September 19, 2016 Category: Neurology Tags: Rev Neurol (Paris) Source Type: research

Anti-HMGCR myopathy: barriers to prompt recognition
We present two patients with atypical clinical or pathological features. A 45-year-old woman had an asymptomatic serum creatine kinase (CK) of ~10 000 IU/L and muscle biopsy showing minimal changes. She then developed slowly progressive proximal weakness, diagnosed as limb-girdle muscular dystrophy but with negative genetics. Twelve years later, now with severe proximal weakness, her MR scan of muscle showed diffuse asymmetrical fatty degeneration, with conspicuous hyperintense STIR signal abnormalities. HMGCR antibodies were positive and she partially improved with immunosuppression. The second patient developed slowly pr...
Source: Practical Neurology - December 23, 2022 Category: Neurology Authors: Andrea Barp Ashirwad Merve Sachit Shah Mahalekshmi Desikan Michael G Hanna Enrico Bugiardini Source Type: research

Myopathy is a poor prognostic feature in systemic sclerosis: results from the Canadian Scleroderma Research Group (CSRG) cohort.
Conclusions: Muscle involvement in SSc has a poor prognosis impacting survival, especially in men with early dcSSc with topo1 and RNP autoantibodies and interstitial lung disease (ILD). PMID: 24650305 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Rheumatology - March 21, 2014 Category: Rheumatology Authors: Jung M, Bonner A, Hudson M, Baron M, Pope J, On Behalf Of The Canadian Scleroderma Research Group Csrg Tags: Scand J Rheumatol 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

Metabolic Consequences of Adipose Trigliceride Lipase Deficiency in Humans: An In Vivo Study in Patients with Neutral Lipid Storage Disease with Myopathy.
Conclusions.In humans ATGL has a remarkable effect on cellular lipid droplets handling and its lack causes both peri-visceral, skeletal muscle and pancreas fat accumulation; in contrast, the impact on whole body insulin sensitivity and fatty acid metabolism is minor. PMID: 23824421 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - July 3, 2013 Category: Endocrinology Authors: Natali A, Gastaldelli A, Camastra S, Baldi S, Quagliarini F, Minicocci I, Bruno C, Pennisi E, Arca M Tags: J Clin Endocrinol Metab Source Type: research

Secondary myopathy due to systemic diseases
ConclusionSecondary muscle manifestations of systemic diseases must be addressed and appropriately managed. Prognosis of secondary muscle disease in systemic diseases is usually fair if the underlying condition is accessible to treatment.
Source: Acta Neurologica Scandinavica - February 25, 2016 Category: Neurology Authors: J. Finsterer, W. N. Löscher, J. Wanschitz, S. Quasthoff, W. Grisold Tags: Review Article Source Type: research

Large vessel vasculitis: a rare cause of isolated lower limb myopathy
Conclusions A thorough work up led to the diagnosis of polyarteritis nodosa as the cause of this patient’s isolated lower limb myopathy. No literature was found on this rare presentation of vasculitis.
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 8, 2017 Category: Neurosurgery Authors: El-Wahsh, S., Weerasinghe, D., McDougall, A. Tags: Abstracts Source Type: research

Development and validation of an ultrahigh performance liquid chromatography ‐high resolution tandem mass spectrometry quantification method for hypoglycin A and methylene cyclopropyl acetic acid carnitine in horse serum in cases of atypical myopathy
Abstract Atypical myopathy (AM) is a fatal disease in horses presumably caused by hypoglycine A (HGA) from ingested maple seeds and its active metabolite methylene cyclopropyl acetic acid (MCPA). The aim of this study was the development and validation of a rapid and simple assay for HGA and MCPA‐carnitine in horse serum and its application to authentic samples. Identification and quantification were carried out by ultra high performance liquid chromatography–high resolution tandem mass spectrometry (UHPLC–HRMS/MS) with full‐scan/data‐dependent MS/MS. Chromatographic separation was performed by isocratic elution ...
Source: Drug Testing and Analysis - December 12, 2017 Category: Drugs & Pharmacology Authors: Wiebke Rudolph, Daniela Remane, Dirk K. Wissenbach, Carmen Klein, Dirk Barnewitz, Frank T. Peters Tags: RESEARCH ARTICLE Source Type: research