ALLMedicine™ Congenital Muscular Dystrophy Center

Nov 23rd, 2021 - Mutations in the genes encoding the major collagen VI isoform, COL6A1, COL6A2 and COL6A3, are responsible for the muscle disorders Bethlem myopathy and Ullrich congenital muscular dystrophy. These disorders form a disease spectrum from mild to sev...

Oct 28th, 2021 - LAMA2-related muscular dystrophy (LAMA2-MD) is classified into congenital muscular dystrophy type 1A (MDC1A) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23). The purpose of this study was to identify the involvement pattern of ...

Oct 1st, 2021 - Congenital muscular dystrophies (CMD) range in phenotype from an antenatal presentation with brain and eye anomalies to isolated muscular weakness. B4GAT1 gene has recently been associated with muscular dystrophy-dystroglycanopathy, type A, 13 and...

Sep 28th, 2021 - Congenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2. Currently, no cure or disease modifying therapy has be...

Sep 17th, 2021 - Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense...

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...

Sep 9th, 2021 - 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...

Oct 8th, 2020 - 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...

Aug 28th, 2020 - 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, ...

Oct 31st, 2016 - This is a 2 stage exploratory study with a 3-month observational phase on the natural course, followed by a 12-month, open-label, non-comparative, single-arm, phase II pilot study on the efficacy, safety and tolerability of a low-protein diet (LPD...

Apr 6th, 2016 - The LMNA related muscular dystrophies are monogenic progressive neuromuscular disorders. Affected pediatric patients can present at birth or in childhood and are classified as either congenital muscular dystrophy (LMNA-CMD), congenital onset Limb-...

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...

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.

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.

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...

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...