型肌营养不良症课件.pptVIP

Myopathies Central core disease: Ryanodine receptor, Ca channel that mediates excitation/contraction coupling, (AD – chromosome 19q13) Associated with Malignant Hyperthermia Myotubular myopathy Myotubularin, important in myogenesis (Xq28) Nemaline Myopathy Caused by many defects, disorder of thin filaments Rod-like stuctures on muscle biopsy Inflammatory Juvenile Dermatomyositis Inclusion Body Myositis (usually distal) Adult Polymyositis (associated with malignancy) Treatment - Medications Steroids Briefly increase strength, slow progression in dystrophinopathy for walking, arm use, and respiratory function Weekend or 15-20/month as well as prednisolone/deflazacort may minimize SE Dilantin and Tegretol raise the repolarization threshold and improve myotonia Methylphenidate improves daytime somnolence in DM Albuterol may help in FSH MD Creatine and glutamine may help delay progression/improve energy in youngest with DMD Treatment – future therapies Genetic therapies Repairing the mutated sequences Using cell’s own repair mechanisms but adding template Gentamicin trial for relaxation in stop codon recognition for DMD has not worked Replacing the mutated sequences Inserting truncated genes or whole gene with vector Upregulation of similar functioning proteins Utrophin in DMD Therapy Contracture prevention Stretching exercises and postural changing Stretch the most contracture prone groups (gastrocnemius, hip flexors, iliotibial bands, hamstrings) AFO at night to supplement Strengthening/conditioning/endurance Goal is to maintain or improve muscle strength and maximize functional ability – slight improvement is possible Additional goal is to avoid muscular damage by overwork or injury No eccentric contraction or delayed soreness Voluntary active exercise such as swimming/hydrotherapy or cycling in ambulatory children currently recommended Mobility aids Walking orthoses – KAFO Standing frames, standing wheelchairs, swivel walker occasionally used Walkers where arm s