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Total 174 results found since Jan 2013.

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

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

Rhabdomyolysis in a patient taking nebivolol
We report a patient who developed rhabdomyolysis after changing medication to nebivolol. A 75-year-old woman was admitted to our hospital because of generalized weakness originating 2 weeks before visiting. Approximately 1 month before her admission, her medication was changed from carvedilol 12.5 mg to nebivolol 5 mg. Over this time span, she had no other lifestyle changes causing rhabdomyolysis. Her blood chemistry and whole body bone scan indicated rhabdomyolysis. We considered newly prescribed nebivolol as a causal agent. She was prescribed carvedilol 12.5 mg, which she was previously taking, instead of nebivolol. S...
Source: Kidney Research and Clinical Practice - August 18, 2016 Category: Urology & Nephrology 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

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
Authors: Maggi L, Brugnoni R, Canioni E, Maccagnano E, Bernasconi P, Morandi L Abstract Skeletal muscle channelopathies (SMC), including non dystrophic myotonias (NDM) and periodic paralyses (PP), are characterized by considerable clinical overlap and clinical features not always allow addressing molecular diagnosis. Muscle imaging has been shown to be useful for differential diagnosis in neuromuscular disorders, however it has been relatively poorly investigated in SMC. We studied 15 patients affected by genetically confirmed SMC (NDM = 9, PP = 6) through muscle MRI or CT of thighs and legs, including 11 patients ...
Source: Acta Myologica - May 21, 2016 Category: Neurology Tags: Acta Myol 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

Management of connective tissue diseases associated interstitial lung disease: a review of the published literature
Purpose of review: Interstitial lung disease (ILD), though a common and often a severe manifestation of many connective tissue diseases (CTD), is challenging to manage because of its variable presentation and the relative lack of guidelines to assist the clinician. In this review, we discuss the approach to diagnosis, treatment, and monitoring patients with CTD-associated ILD, with a focus on systemic sclerosis (SSc), rheumatoid arthritis (RA), and idiopathic inflammatory myopathy (IIM). Recent findings: High-resolution computed tomography scan and pulmonary function testing can be reliably used to diagnose ILD and monito...
Source: Current Opinion in Rheumatology - April 1, 2016 Category: Rheumatology Tags: CLINICAL THERAPEUTICS: Edited by W. Joseph McCune Source Type: research

PET/CT scan revealing active idiopathic inflammatory myopathy with normal serum sarcoplasmic enzymes levels.
Authors: Piga M, Pesella F, Corraine ML, Floris A, Cauli A, Mathieu A Abstract ****************************************************************************. PMID: 26968020 [PubMed - as supplied by publisher]
Source: Clinical and Experimental Rheumatology - March 13, 2016 Category: Rheumatology Tags: Clin Exp Rheumatol 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

Anti-HMGCR antibody-associated necrotizing myopathy: diagnosis and treatment illustrated using a case report.
PMID: 26886059 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Rheumatology - February 17, 2016 Category: Rheumatology Authors: Giudizi MG, Cammelli D, Vivarelli E, Biagiotti R, Ferraro A, Bentow C, Almerigogna F, Albesa R, Mahler M Tags: Scand J Rheumatol Source Type: research

Magnetic resonance measurement of muscle T2, fat-corrected T2 and fat fraction in the assessment of idiopathic inflammatory myopathies
Conclusion. Muscle T2, fc-T2 and FF measurements exhibit content validity with reference to semi-quantitative scoring of STIR and T1 MRI, and also exhibit construct validity with reference to several myositis activity and damage measures. T2 was as responsive as fc-T2 and STIR scoring, although progression of muscle damage was negligible during the study.
Source: Rheumatology - February 8, 2016 Category: Rheumatology Authors: Yao, L., Yip, A. L., Shrader, J. A., Mesdaghinia, S., Volochayev, R., Jansen, A. V., Miller, F. W., Rider, L. G. Tags: Myositis and Muscle Disease, Diagnostics and Imaging Procedures CLINICAL SCIENCE Source Type: research

A Case of Rhabdomyolysis in Patient Taking Nebivolol
We report a patient who developed rhabdomyolysis after changing medication to nebivolol. A 75-year old woman was admitted to our hospital because of generalized weakness originating 2 weeks before visiting. Approximately 1 month prior to her admission, her medication was changed from carvedilol 12.5 mg to nebivolol 5 mg. Over this time span she had no other life style changes causing rhabdomyolysis. Her blood chemistry and whole body bone scan indicated rhabdomyolysis. We considered newly prescribed nebivolol as a causal agent. She was prescribed carvedilol 12.5mg, which she was previous taken, instead of nebivolol. She wa...
Source: Kidney Research and Clinical Practice - January 23, 2016 Category: Urology & Nephrology Source Type: research

An Unusual Presentation of Parathyroid Adenoma in an Adolescent: Calcific Achilles Tendinitis.
In conclusion, hyperparathyroidism should be kept in mind in the differential diagnosis of tendonopathies. Early diagnosis can be crucial for prevention of severe complications. PMID: 26777046 [PubMed - in process]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 20, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Muscle imaging in STIM1-mutated tubular aggregate myopathy patients
Tubular aggregate myopathy (TAM) is a genetically heterogeneous nosological entity characterized by tubular aggregates as the exclusive hallmark on muscle biopsy. Mutations in STIM1 have been recently identified as one molecular cause of a number of TAM cases. To characterize the pattern of muscle involvement in this disease, five STIM1-mutated patients were imaged at the upper and lower girdles, and the scans were compared with two patients with TAM not caused by mutations in STIM1. A common pattern of involvement was found in all STIM1-mutated patients, although with variable extent and severity of lesions.
Source: Neuromuscular Disorders - September 11, 2015 Category: Neurology Authors: G. Tasca, A. D'Amico, M. Monforte, A. Nadaj-Pakleza, M. Vialle, F. Fattori, J. Vissing, E. Ricci, E. Bertini Source Type: research

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