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About 6,538 results

ALLMedicine Myopathies Center

Research & Reviews  3,175 results

Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236878
BMC Neurology; Leung DG, Bocchieri AE et. al.

May 20th, 2020 - Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associated myopathies, cli...

Statin use in patients with non-HMGCR idiopathic inflammatory myopathies: A retrospecti...
https://doi.org/10.1002/clc.23375
Clinical Cardiology REFERENCES; Bae SS, Oganesian B et. al.

May 19th, 2020 - Statins are the most widely used lipid lowering therapies which reduce cardiovascular risk, but are associated with muscular adverse events (AEs). Idiopathic inflammatory myopathies (IIM) are autoimmune diseases of the muscle with higher risk of c...

Lung involvement associated with anti-NXP2 autoantibodies in inflammatory myopathies: a...
https://doi.org/10.1080/17476348.2020.1767598
Expert Review of Respiratory Medicine; Bermudez J, Heim X et. al.

May 12th, 2020 - Inflammatory myopathies (IM) are characterized by muscular inflammation that can be associated with systemic disorders including lung. Anti-NXP2 antibody (Ab) is a rare myositis-specific antibody and its association with pulmonary involvement is s...

Response to: 'External validation of EULAR/ACR classification criteria for idiopathic i...
https://doi.org/10.1136/annrheumdis-2020-217635
Annals of the Rheumatic Diseases; Jinnin M, Ohta A et. al.

May 11th, 2020 - Response to: 'External validation of EULAR/ACR classification criteria for idiopathic inflammatory myopathies' by Luu et al.|2020|Jinnin M,Ohta A,Kohsaka H,|

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hype...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204063
Orphanet Journal of Rare Diseases; Lawal TA, Wires ES et. al.

May 9th, 2020 - Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a spectrum ...

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Guidelines  2 results

2017 European League Against Rheumatism/American College of Rheumatology classification...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736307
Annals of the Rheumatic Diseases; Lundberg IE, Tjärnlund A et. al.

Oct 28th, 2017 - To develop and validate new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIM) and their major subgroups. Candidate variables were assembled from published criteria and expert opinion using consensus methodolog...

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peri...
https://doi.org/10.1111/j.1468-1331.2010.03069.x
European Journal of Neurology; Burgunder JM, Schöls L et. al.

May 26th, 2010 - These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when ...

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Clinicaltrials.gov  3,257 results

Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236878
BMC Neurology; Leung DG, Bocchieri AE et. al.

May 20th, 2020 - Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associated myopathies, cli...

Statin use in patients with non-HMGCR idiopathic inflammatory myopathies: A retrospecti...
https://doi.org/10.1002/clc.23375
Clinical Cardiology REFERENCES; Bae SS, Oganesian B et. al.

May 19th, 2020 - Statins are the most widely used lipid lowering therapies which reduce cardiovascular risk, but are associated with muscular adverse events (AEs). Idiopathic inflammatory myopathies (IIM) are autoimmune diseases of the muscle with higher risk of c...

Lung involvement associated with anti-NXP2 autoantibodies in inflammatory myopathies: a...
https://doi.org/10.1080/17476348.2020.1767598
Expert Review of Respiratory Medicine; Bermudez J, Heim X et. al.

May 12th, 2020 - Inflammatory myopathies (IM) are characterized by muscular inflammation that can be associated with systemic disorders including lung. Anti-NXP2 antibody (Ab) is a rare myositis-specific antibody and its association with pulmonary involvement is s...

Response to: 'External validation of EULAR/ACR classification criteria for idiopathic i...
https://doi.org/10.1136/annrheumdis-2020-217635
Annals of the Rheumatic Diseases; Jinnin M, Ohta A et. al.

May 11th, 2020 - Response to: 'External validation of EULAR/ACR classification criteria for idiopathic inflammatory myopathies' by Luu et al.|2020|Jinnin M,Ohta A,Kohsaka H,|

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hype...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204063
Orphanet Journal of Rare Diseases; Lawal TA, Wires ES et. al.

May 9th, 2020 - Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a spectrum ...

see more →

News  95 results

Congenital myasthenic syndrome diagnosed best with repetitive stimulation and jitter analysis
https://www.mdedge.com/neurology/article/210304/neuromuscular-disorders/congenital-myasthenic-syndrome-diagnosed-best?channel=53
Tara Haelle

Oct 17th, 2019 - AUSTIN, TEX. – The use of both repetitive stimulation (RS) and jitter analysis are important for accurate diagnosis of congenital myasthenic syndrome (CMS) suggests newly presented research.

New System Classifies Idiopathic Inflammatory Myopathies
https://www.mdedge.com/neurology/article/175874/rare-diseases/new-system-classifies-idiopathic-inflammatory-myopathies

Sep 27th, 2018 - A new system that incorporates clinical and serologic data may help classify idiopathic inflammatory myopathies, according to an analysis published online ahead of print September 10 in JAMA Neurology. By analyzing the patterns of relationships be.

Idiopathic inflammatory myopathies: Muscle biopsy no longer needed?
https://www.mdedge.com/neurology/article/174324/neuromuscular-disorders/idiopathic-inflammatory-myopathies-muscle-biopsy-no
Andrew D. Bowser

Sep 10th, 2018 - A new classification system that incorporates clinical and serologic data may be useful in the classification of idiopathic inflammatory myopathies, results of a recent analysis suggest. By analyzing the patterns of relationships between 47 variab.

Stroke Risk Doubled in Myopathy
https://www.medpagetoday.com/rheumatology/generalrheumatology/74089

Jul 18th, 2018 - Action Points Be aware that patients with idiopathic inflammatory myopathies have double the risk of both ischemic and hemorrhagic stroke compared to the general population, according to a Swedish population-based cohort study. Note that the idiop...

Rare paraneoplastic dermatomyositis secondary to high-grade bladder cancer
https://www.mdedge.com/hematology-oncology/article/164487/genitourinary-cancer/rare-paraneoplastic-dermatomyositis
Kase et al

Apr 29th, 2018 - The clinical presentation of bladder cancer typically presents with hematuria; changes in voiding habits such as urgency, frequency, and pain; or less commonly, obstructive symptoms. Rarely does bladder cancer first present as part of a paraneopla.

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Patient Education  9 results see all →