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About 1,411 results

ALLMedicine™ Congenital Muscular Dystrophy Center

Research & Reviews  701 results

Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a C...
https://doi.org/10.1097/CND.0000000000000320
Journal of Clinical Neuromuscular Disease; Mihaylova V, Chablais F et. al.

Feb 17th, 2021 - Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Ku...

Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment.
https://doi.org/10.1097/ALN.0000000000003698
Anesthesiology Veyckemans F

Feb 2nd, 2021 - Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment.|2021|Veyckemans F,|

COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenit...
https://doi.org/10.1002/mus.27162
Muscle & Nerve REFERENCES; Brands J, Steffen F et. al.

Dec 31st, 2020 - Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in La...

Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital mu...
https://doi.org/10.1016/j.braindev.2020.11.009
Brain & Development; Takeshita S, Saito Y et. al.

Dec 5th, 2020 - Marked decreases in serum creatine kinase levels have been noted in Duchenne and Becker muscular dystrophies as rare complications of autoimmune or autoinflammatory diseases. The influence of systemic inflammation on serum creatine kinase levels w...

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: a...
https://doi.org/10.1038/s41431-020-00759-9
European Journal of Human Genetics : EJHG; Lee JS, Lee KB et. al.

Nov 25th, 2020 - Direct haplotyping enables noninvasive prenatal testing (NIPT) without analyzing proband, which is a promising strategy for pregnancies at risk of an inherited single-gene disorder. Here, we aimed to expand the scope of single-gene disorders that ...

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Guidelines  3 results

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital m...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4388744
Neurology Kang PB, Morrison L et. al.

Mar 31st, 2015 - To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature. Relevant, peer-reviewed research articles were identified using a lit...

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 16th, 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...

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
https://www.mda.org/sites/default/files/publications/CongenitalMD_CareGuidelines.pdf
Ching H. Wang

Nov 14th, 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.

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Clinicaltrials.gov  703 results

Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a C...
https://doi.org/10.1097/CND.0000000000000320
Journal of Clinical Neuromuscular Disease; Mihaylova V, Chablais F et. al.

Feb 17th, 2021 - Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Ku...

Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment.
https://doi.org/10.1097/ALN.0000000000003698
Anesthesiology Veyckemans F

Feb 2nd, 2021 - Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment.|2021|Veyckemans F,|

COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenit...
https://doi.org/10.1002/mus.27162
Muscle & Nerve REFERENCES; Brands J, Steffen F et. al.

Dec 31st, 2020 - Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in La...

Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital mu...
https://doi.org/10.1016/j.braindev.2020.11.009
Brain & Development; Takeshita S, Saito Y et. al.

Dec 5th, 2020 - Marked decreases in serum creatine kinase levels have been noted in Duchenne and Becker muscular dystrophies as rare complications of autoimmune or autoinflammatory diseases. The influence of systemic inflammation on serum creatine kinase levels w...

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: a...
https://doi.org/10.1038/s41431-020-00759-9
European Journal of Human Genetics : EJHG; Lee JS, Lee KB et. al.

Nov 25th, 2020 - Direct haplotyping enables noninvasive prenatal testing (NIPT) without analyzing proband, which is a promising strategy for pregnancies at risk of an inherited single-gene disorder. Here, we aimed to expand the scope of single-gene disorders that ...

see more →

News  4 results

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.

AAN and AANEM publish guides for evaluation, diagnosis and management of Congenital Muscular Dystrophy (CMD)
https://www.mdedge.com/neurology/article/99459/rare-diseases/aan-and-aanem-publish-guides-evaluation-diagnosis-and

May 6th, 2015 - The American Academy of Neurology (AAN) and American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) have published guidelines regarding CMD, based on review of the literature. Geographic and ethnic background, clinical features,.

AAN and AANEM Publish Guides for Evaluation, Diagnosis and Management of Congenital Muscular Dystrophy (CMD)
https://www.mdedge.com/neurology/article/99419/aan-and-aanem-publish-guides-evaluation-diagnosis-and-management-congenital

May 5th, 2015 - The American Academy of Neurology (AAN) and American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) have published guidelines regarding CMD, based on review of the literature. Geographic and ethnic background, clinical features,.

Clinical Guidelines: Congenital Muscular Dystrophy
https://www.mdedge.com/neurology/article/98669/movement-disorders/clinical-guidelines-congenital-muscular-dystrophy

Apr 14th, 2015 - The American Academy of Neurology and the American Association of Neuromuscular & Electrodiagnostic Medicine released an evidence-based guideline of the evaluation, diagnosis, and management of congenital muscular dystrophy (CMD), with the followi.

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