Muscular Dystrophy

Emery dreifuss muscular dystrophy: A clinico-pathological study
Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.

Muscular dystrophy (MD)
Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. The disease affects the muscles, with definite fiber degeneration but without evidence for morphologic aberrations.

Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data
In a typical time course microarray study, a number of microarray experiments are carried out at biologically interesting time points and across different biological conditions.

High-Dose Prednisone in Duchenne Muscular Dystrophy

This study will help to determine whether a high-dose weekly course of prednisone therapy is safer than and at least as effective as daily dose therapy for people with Duchenne muscular dystrophy (DMD). Boys who are enrolled in this study should not have taken carnitine, other amino acids, creatine, glutamine, Coenzyme Q10 or any herbal medicines within the last three months. There will be a two-visit screening to take place in one week to ensure a reproducible manual muscle test. The subject will then be randomized and put into either the daily or weekly regimen. The duration of the study is twelve 28-day treatment cycles (approximately 12 months) with follow-up visits at month one, three and then every three months.

• Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
• Glucocorticoid corticosteroids for Duchenne muscular dystrophy
• Corticosteroids in Duchenne muscular dystrophy: a reappraisal
• Corticosteroid treatment and functional improvement in Duchenne muscular dystrophy: long-term effect
• High dose weekly oral prednisone improves strength in boys with Duchenne muscular dystrophy

Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD), a fatal muscle degenerative disorder, arises from mutations in the dystrophin gene. Antisense therapy with the use of antisense oligonucleotides (AON) has the potential to restore effectively the production of dystrophin, the defective protein, in >70% of DMD. This could result in increased life expectancy through improved muscle survival and function. Recent scientific research has demonstrated the potential of this technique to skip mutated dystrophin exons, restore the reading frame and generate functional dystrophin protein. Having demonstrated proof-of-principle in human cell culture and animal model studies, we now intend to determine efficacy and safety in human clinical trials.

• Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
• Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse
• Splicing intervention for Duchenne muscular dystrophy
• Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients
• Modification of pre-mRNA processing: application to dystrophin expression

A Clinical Evaluation of FKRP Muscular Dystrophy

The purposes of the study are to learn about the early signs and symptoms of fukutin-related protein (FKRP) muscular dystrophy, and to determine the reasons for differences in disease severity.

• New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities
• FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts
• Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
• Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD
• Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

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