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Neuromuscular Diseases : Focus on Multiple Sclerosis , Amyotrophic Lateral Sclerosis , and Muscular Dystrophy - PowerPoint PPT Presentation


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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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


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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.


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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.


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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.


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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


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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.


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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.


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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


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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


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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.


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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.


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