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About 793 results

ALLMedicine™ Congenital Muscular Dystrophy Center

Research & Reviews  295 results

The most severe form of LMNA-associated congenital muscular dystrophy.
https://doi.org/10.1016/j.braindev.2022.05.006
Brain & Development; Murofushi Y, Hayakawa I et. al.

Jun 22nd, 2022 - Alterations in the LMNA gene cause a wide spectrum of diseases collectively called laminopathies. LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes infantile onset of muscle weakness, predominantly in the...

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...

The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
https://clinicaltrials.gov/ct2/show/NCT04478981

Apr 29th, 2022 - Rationale: Patients with mutations in the SELENON gene suffer from slowly progressive congenital muscular dystrophy with early onset rigidity of the spine and potentially life-threatening respiratory insufficiency. The protein encoded by SELENON, ...

Characteristics and feasibility of ambulatory respiratory assessment of paediatric neur...
https://doi.org/10.1080/00207454.2022.2042691
The International Journal of Neuroscience; Zhang C, Wei CJ et. al.

Mar 16th, 2022 - To investigate the characteristics of respiratory involvement in Chinese paediatric neuromuscular disease (NMD) at early stage and to explore convenient monitoring methods. Children with NMD (age < 18) diagnosed at a multidisciplinary joint NMD cl...

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Con...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8834967
International Journal of Environmental Research and Publi... Sabatelli P, Merlini L et. al.

Feb 16th, 2022 - Ullrich congenital muscular dystrophy (UCMD) is a severe form of muscular dystrophy caused by the loss of function of collagen VI, a critical component of the muscle-tendon matrix. Magnetic resonance imaging of UCMD patients' muscles shows a pecul...

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Guidelines  1 results

Consensus statement on standard of care for congenital muscular dystrophies.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207780
Journal of Child Neurology; Wang CH, Bonnemann CG et. al.

Nov 17th, 2010 - Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. Ho...

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Clinicaltrials.gov  12 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...

The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
https://clinicaltrials.gov/ct2/show/NCT04478981

Apr 29th, 2022 - Rationale: Patients with mutations in the SELENON gene suffer from slowly progressive congenital muscular dystrophy with early onset rigidity of the spine and potentially life-threatening respiratory insufficiency. The protein encoded by SELENON, ...

Retrospective Natural History Study of Infants and Toddlers With LAMA2-CMD
https://clinicaltrials.gov/ct2/show/NCT04299321

Feb 7th, 2022 - LAMA2-related congenital muscular dystrophy (LAMA2-CMD) is caused by a deficiency of the α2 subunit of laminin due to mutation of the LAMA2 gene. Typical LAMA2-CMD cases present with prominent hypotonia and weakness in infancy. Congenital contract...

Clinical Trial Readiness for the Dystroglycanopathies
https://clinicaltrials.gov/ct2/show/NCT00313677

Jan 4th, 2022 - Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The disorders are caused by mutations, or changes, in genes. Genes are tiny pieces of inherited material (DNA) that direct th...

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News  9 results

BRIEF-Santhera Signs Agreements In Gene Therapy Research For Congenital Muscular Dystrophy
https://www.reuters.com/article/brief-santhera-signs-agreements-in-gene/brief-santhera-signs-agreements-in-gene-therapy-research-for-congenital-muscular-dystrophy-idUSASN0006F4

May 6th, 2020 - May 6 (Reuters) - SANTHERA PHARMACEUTICALS HOLDING AG : * SANTHERA SIGNS AGREEMENTS IN GENE THERAPY RESEARCH FOR CONGENITAL MUSCULAR DYSTROPHY WITH RUTGERS UNIVERSITY * SANTHERA GAINS RIGHTS TO INTELLECTUAL PROPERTY DEVELOPED AT RUTGERS ON CERTAIN...

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/familymedicine/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps
Neurology Reviews;

Sep 23rd, 2016 - Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/neurology/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps

Sep 23rd, 2016 - Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

Duchenne Newborn Screening Will Identify Other Conditions
https://www.medscape.com/viewarticle/856277

Dec 21st, 2015 - Routine screening of newborns for Duchenne muscular dystrophy (DMD) is under consideration in the United States and elsewhere in the world because of recent developments in diagnostics and treatments. Some of the implications of such screening are...

Duchenne Newborn Screening Will Identify Other Conditions
https://www.staging.medscape.com/viewarticle/856277

Dec 21st, 2015 - Routine screening of newborns for Duchenne muscular dystrophy (DMD) is under consideration in the United States and elsewhere in the world because of recent developments in diagnostics and treatments. Some of the implications of such screening are...

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