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About 728 results

ALLMedicine™ Limb-girdle Muscular Dystrophy Center

Research & Reviews  280 results

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...

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...

Serum miRNAs as biomarkers for the rare types of muscular dystrophy.
https://doi.org/10.1016/j.nmd.2022.03.003
Neuromuscular Disorders : NMD; Koutsoulidou A, Koutalianos D et. al.

Apr 9th, 2022 - Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, ...

Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance sp...
https://doi.org/10.1002/jcsm.12987
Journal of Cachexia, Sarcopenia and Muscle; Reyngoudt H, Smith FE et. al.

Apr 5th, 2022 - Natural history studies in neuromuscular disorders are vital to understand the disease evolution and to find sensitive outcome measures. We performed a longitudinal assessment of quantitative magnetic resonance imaging (MRI) and phosphorus magneti...

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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  7 results

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...

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...

Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I
https://clinicaltrials.gov/ct2/show/NCT03842878

Jan 5th, 2022 - Study duration Duration from First visit of first patient (FPFV) to Last visit of last patient (LPLV) : 3 years Study objectives Primary objective: To characterize the disease course in Limb-Girdle Muscular Dystrophy 2I (LGMD2I) patients using sta...

Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases
https://clinicaltrials.gov/ct2/show/NCT04349566

Dec 20th, 2021 - The purpose of the study is to explore the biomarker Fast Troponins response to exercise in patients with Becker muscular dystrophy, Limb-girdle muscular dystrophy and McArdle disease

MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants
https://clinicaltrials.gov/ct2/show/NCT05102799

Nov 11th, 2021 - Background: The anoctamin 5 gene (ANO5) encodes the anoctamine 5 protein that act as a calcium-sensitive chloride channel. The protein is preferentially expressed in skeletal and cardiac muscle and bone and likely acts in the repair of the cell me...

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News  3 results

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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