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Neuromuscular Diseases : Focus on Multiple Sclerosis , Amyotrophic Lateral Sclerosis , and Muscular Dystrophy PowerPoint Presentation
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Neuromuscular Diseases : Focus on Multiple Sclerosis , Amyotrophic Lateral Sclerosis , and Muscular Dystrophy. 9.20 - 9.30 Introduction to the session

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Neuromuscular Diseases : Focus on Multiple Sclerosis , Amyotrophic Lateral Sclerosis , and Muscular Dystrophy


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    1. NeuromuscularDiseases: Focus on Multiple Sclerosis, AmyotrophicLateralSclerosis, and MuscularDystrophy 9.20 - 9.30Introductionto the session 9.30 - 10.15 Alex KAZANTSEV – Massachusetts General Hospital, Harvard MedicalSchool, Charlestown, MA (USA) Multiple and AmyotrophicLateralSclerosis : Understanding the MechanismsofNeurodegeneration and Developing Diverse Therapeutics 10.15 - 11.00 John MATSOUKAS - UniversityofPatras, Patras (Gr)Linear and CyclicMyelinAnalogues in the Immunotherapyof Multiple Sclerosis 11.30 - 12.15 Rebecca PRUSS - TROPHOS, Marseille (F)UseofCellBasedAssaystoDefine SAR and SelectDrugCandidatesfor Motor NeuronDiseases (and OtherIndications) 15.00 - 15.45 Pier Lorenzo PURI - BurnhamInstitute, San Diego (USA) e Dulbecco Telethon Institute, S. Lucia/EBRI , Rome (I)EpigeneticBasisofMuscleRegeneration in MuscularDystrophy 15.45 - 16.30 Carlo GAETANO - IDI, Rome (I) NO Sparks off Chromatin: Tale of a MultifacetedEpigeneticRegulator

    2. What is Multiple Sclerosis? Multiple sclerosis (or MS) is a chronic, often disabling disease That attacks the central nervous system (CNS), which is made up of the brain, spinal cord, and optic nerves. Symptoms may be mild, such as numbness in the limbs, or severe, such as paralysis or loss of vision. The progress, severity, and specific symptoms of MS are unpredictable and vary from one person to another. Today, new treatments and advances in research are giving new hope to people affected by the disease.

    3. MS is Thought to be an Autoimmune Disease The body’s own defense system attacks myelin, the fatty substance that surrounds and protects the nerve fibers in the central nervous system. The nerve fibers themselves can also be damaged. The damaged myelin forms scar tissue (sclerosis), which gives the disease its name. When any part of the myelin sheath or nerve fiber is damaged or destroyed, nerve impulses traveling to and from the brain and spinal cord are distorted or interrupted, producing the variety of symptoms that can occur.

    4. Treatments for MS Although there is still no cure for MS, effective strategies are available to modify the disease course, treat exacerbations (also called attacks, relapses, or flare-ups), manage symptoms, improve function and safety, and provide emotional support. In combination, these treatments enhance the quality of life for people living with MS.

    5. Glatirameracetate Glatiramer acetate is a random polymer (average molecular mass 6.4 kD) composed of four amino acids that are found in myelin basic protein. It is an immunomodulator, licensed in much of the world for reduced frequency of relapses in relapsing-remitting multiple sclerosis. It is a non-interferon and non steroidal medication. The mechanism of action for glatiramer is unknown, although several have been proposed. Glatiramer acetate

    6. Mitoxantrone Mitoxantrone is a type II topoisomeraseinhibitor; it disrupts DNA synthesis and DNA repair in both healthy cells and cancer cells. It also engages in intercalation. It is used in the treatment of certain types of cancer, mostly metastaticbreast cancer, acute myeloid leukemia, and non-Hodgkin's lymphoma. mitoxantrone Mitoxantrone is also used to treat multiple sclerosis (MS), most notably the subset known as secondary progressive MS. Mitoxantrone will not cure multiple sclerosis, but is effective in slowing the progression of secondary progressive MS.

    7. What is ALS? Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.

    8. IsThereAny Treatment for ALS? No cure has yet been found for ALS. However, the FDA has approved the first drug treatment for the disease—riluzole.  Riluzole is believed to reduce damage to motor neurons and prolongs survival by several months, mainly in those with difficulty swallowing.  Other treatments are designed to relieve symptoms and improve the quality of life for people with ALS.  Drugs also are available to help individuals with pain, depression, sleep disturbances, and constipation.  Individuals with ALS may eventually consider forms of mechanical ventilation (respirators).  riluzole

    9. Riluzole • Riluzole has several actions: • Sodiumchannel blockade • High-voltage calcium channel blockade • N-methyl-D-aspartate (NMDA)/glutamate receptor antagonism • Glutamate transporter activation • Inhibition of protein kinase C • Riluzole preferentially blocks TTX sensitive sodium channels, which are associated with damaged neurons.This reduces influx of calcium ions and indirectly prevents stimulation of glutamate receptors. Together with direct glutamate receptor blockade, the effect of the neurotransmitterglutamate on motor neurons is greatly reduced. riluzole

    10. What Is Muscular Dystrophy? Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move. People with MD have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people  take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or their symptoms might start later. Some people even develop MD as adults. Duchennemuscular dystrophy(DMD), the most common type of the disease, is caused by a problem with the gene that makes a protein called dystrophin. This protein helps muscle cells keep their shape and strength. Without it, muscles break down and a person gradually becomes weaker.

    11. HowIs MD Treated? There's currently no cure for any form of muscular dystrophy. Research into gene therapy may eventually provide treatment to stop the progression of some types of muscular dystrophy. Current treatment is designed to help prevent or reduce deformities in the joints and the spine and to allow people with MD to remain mobile as long as possible. Treatments may include various types of physical therapy, medications, assistive devices and surgery. MedicationsDoctors prescribe medications to treat some forms of MD: Myotonic dystrophy. Medications that may be used to help manage the muscle spasms, stiffness and weakness associated with this condition include mexiletine, phenytoin, baclofen, dantrolene and carbamazepine. Duchenne's muscular dystrophy. The anti-inflammatory corticosteroid medication prednisone may help improve muscle strength and delay the progression of Duchenne's MD.