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About 848 results

ALLMedicine™ Limb-girdle Muscular Dystrophy Center

Research & Reviews  312 results

Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of...
https://doi.org/10.1186/s12920-022-01284-y 10.1038/nature01573 10.1016/j.nmd.2018.05.007 10.1001/archneur.64.8.1176 10.1002/mus.25367 10.1016/j.pcl.2018.04.006 10.1056/NEJM197502132920706 10.1056/NEJM197502202920807 10.1136/annrheumdis-2017-211468 10.1093/rheumatology/key343 10.1093/rheumatology/keaa801 10.1212/WNL.61.3.316 10.1212/WNL.61.3.288 10.1001/jamaneurol.2018.2598 10.1016/S0889-857X(02)00031-5 10.1097/BOR.0000000000000837 10.1016/j.lpm.2010.11.023 10.1111/j.1365-2559.2009.03407.x 10.1007/s11926-015-0541-0 10.1097/BOR.0000000000000441 10.1212/WNL.57.11.2136 10.1046/j.1365-2990.2002.00417.x 10.1016/S0960-8966(99)00041-3 10.1212/NXG.0000000000000089 10.3346/jkms.2006.21.4.724 10.1016/j.nmd.2006.01.005 10.1590/S0004-282X2008000100019 10.1007/s10067-009-1273-1 10.1016/j.nmd.2011.02.003 10.1016/j.nmd.2011.12.007 10.3346/jkms.2012.27.4.423 10.1097/RHU.0000000000000126 10.1016/j.medcli.2014.12.009 10.1016/j.jbspin.2015.03.017 10.1017/cjn.2015.386 10.3892/etm.2016.3716 10.12659/AJCR.900970 10.1007/s00393-017-0326-0 10.1097/MD.0000000000010539 10.1186/1750-1172-8-26 10.1186/s13023-017-0699-9 10.1212/WNL.57.2.271 10.1002/mus.22314 10.5114/fn.2021.109426 10.1002/humu.9355 10.1038/s41586-019-1231-2 10.1002/humu.21160
BMC Medical Genomics; Contreras-Cubas C, Barajas-Olmos F et. al.

Jun 21st, 2022 - Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective and progressive involvement of the pr...

Modifying Factors in Striated Muscle Laminopathies
https://clinicaltrials.gov/ct2/show/NCT05394506

May 27th, 2022 - Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvemen...

Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years' Follo...
https://doi.org/10.1212/WNL.0000000000200708
Neurology De Wel B, Huysmans L et. al.

May 17th, 2022 - Limb-Girdle Muscular Dystrophy autosomal recessive type 12 (LGMDR12) is a rare hereditary muscular dystrophy for which outcome measures are currently lacking. We evaluated quantitative MRI and clinical outcome measures to track disease progression...

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in ...
https://doi.org/10.1016/j.hrthm.2022.04.022
Heart Rhythm; Groh WJ, Bhakta D et. al.

May 3rd, 2022 - This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders (NMDs). The doc...

Limb Girdle Muscular Dystrophy (LGMD) Natural History
https://clinicaltrials.gov/ct2/show/NCT01783509

Apr 28th, 2022 - The purpose of this study is to understand more about limb-girdle muscular dystrophy. Therefore, the investigators would like to track the following information collected once a year from patients with GENETICALLY CONFIRMED LGMD: quality of life q...

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Guidelines  1 results

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in ...
https://doi.org/10.1016/j.hrthm.2022.04.022
Heart Rhythm; Groh WJ, Bhakta D et. al.

May 3rd, 2022 - This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders (NMDs). The doc...

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Clinicaltrials.gov  21 results

Modifying Factors in Striated Muscle Laminopathies
https://clinicaltrials.gov/ct2/show/NCT05394506

May 27th, 2022 - Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvemen...

Limb Girdle Muscular Dystrophy (LGMD) Natural History
https://clinicaltrials.gov/ct2/show/NCT01783509

Apr 28th, 2022 - The purpose of this study is to understand more about limb-girdle muscular dystrophy. Therefore, the investigators would like to track the following information collected once a year from patients with GENETICALLY CONFIRMED LGMD: quality of life q...

A Study of the Natural History of Patients With LGMD2E/R4, LGMD2D/R3, and LGMD2C/R5, ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
https://clinicaltrials.gov/ct2/show/NCT04475926

Apr 18th, 2022 - This study will follow patients who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), or Limb-girdle muscular dystrophy type 2C (LGMD2C/R5...

A Gene Transfer Therapy Study to Evaluate the Safety of SRP-9004 in Participants With Limb-Girdle Muscular Dystrophy, Type 2D (LGMD2D)
https://clinicaltrials.gov/ct2/show/NCT01976091

Apr 8th, 2022 - This is an open-label, dose escalation gene transfer therapy study evaluating the safety of SRP-9004 via isolated limb infusion (ILI) administration in approximately 6 participants with LGMD2D.

Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders
https://clinicaltrials.gov/ct2/show/NCT05199246

Mar 29th, 2022 - Patients with neuromuscular disorders display different type of symptoms depending on the type of pathology. Diseases like facioscapulohumeral dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD2b), sporadic inclusion body myositis (SIBM) or Po...

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News  5 results

AAN Guideline Provides Recommendations for Diagnosing Rare Forms of Muscular Dystrophy
https://www.mdedge.com/neurology/article/88362/movement-disorders/aan-guideline-provides-recommendations-diagnosing-rare

Oct 31st, 2014 - A new guideline from the American Academy of Neurology (AAN) and the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) provides recommendations about how physicians should evaluate a patient to determine which genetic te.

Consider Muscular Dystrophies Even in Older Patients
https://www.mdedge.com/rheumatology/article/54766/rheumatology/consider-muscular-dystrophies-even-older-patients
Sharon Worcester

Jun 5th, 2012 - DESTIN, FLA. – An increasing number of patients are presenting with muscular dystrophy in adulthood.

Mutation Causes Muscular Dystrophy With Cognitive Impairment
https://www.staging.medscape.com/viewarticle/738732

Mar 10th, 2011 - March 10, 2011 — Researchers have provided the first genetic evidence to indicate that the dystroglycan-encoding gene (DAG1) is directly involved in the development of limb-girdle muscular dystrophy with associated cognitive dysfunction. Kevin P. ...

Mutation Causes Muscular Dystrophy With Cognitive Impairment
https://www.medscape.com/viewarticle/738732

Mar 10th, 2011 - March 10, 2011 — Researchers have provided the first genetic evidence to indicate that the dystroglycan-encoding gene (DAG1) is directly involved in the development of limb-girdle muscular dystrophy with associated cognitive dysfunction. Kevin P. ...

In Kids, Seek Neurologic Clues Before Transplant
https://www.mdedge.com/cardiology/article/42317/interventional-cardiology-surgery/kids-seek-neurologic-clues-transplant
Michele G. Sullivan

PITTSBURGH — Preoperative neurologic and genetic work-ups may detect a previously unsuspected cause of cardiac disease in children about to receive a heart transplant, Dr. Debabrata Ghosh reported in a poster at the annual meeting of the Child Neu.

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