Duchenne and Becker Muscular Dystrophies

Brief Description Duchenne and Becker muscular dystrophies are two variants of the same neuromuscular disease characterized by the absence, deficiency or alteration of a protein called dystrophin. These conditions lead to the degeneration of muscle tissue, resulting in a gradual loss of strength and reduction of motor skills. Causes Both forms of muscular dystrophy...
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Spinal Muscular Atrophy (SMA)

Brief Description Spinal Muscular Atrophy (SMA) is a neuromuscular disease that causes the degeneration of motor neurons at the base of the brain and along the anterior horn of the spinal cord, causing muscle weakness. The four main SMA forms differ for onset age, severity, development and transmission mode, but they all affect skeletal muscles of the trunk and limbs ; in...
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Amyotrophic Lateral Sclerosis (ALS)

Brief Description Amyotrophic Lateral Sclerosis (ALS) is a severe neurodegenerative disease that appears in adulthood and affects motor neurons, i.e. the nerve cells that allow the movement of voluntary muscles. It causes the progressive loss of abilities such as swallowing (dysphagia), speech (dysarthria) and control over skeletal muscles, eventually leading to the impai...
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Myasthenia Gravis (MG)

Brief Description Myasthenia Gravis (MG) is an autoimmune disease that causes weakness and rapid fatigue of voluntary muscles. It occurs when the immune system attacks the receptors for acetylcholine, a substance that transmits the impulse from the motor neuron to the muscle, blocking the transmission of nerve impulses to muscles and thus causing an anomalous muscle exhausti...
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Multiple Sclerosis (MS)

Brief Description Also known as disseminated sclerosis, Multiple Sclerosis is a demyelinating neurodegenerative disease that causes lesions to the central nervous system, i.e. the brain, spinal cord and optic nerves. Myelin is the insulating cover that protects axons and allows a rapid and efficient propagation of the signal of the neurons: demyelination is the main cause...
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Chronic Obstructive Pulmonary Disease (COPD)

Brief Description COPD is the acronym of Chronic Obstructive Pulmonary Disease. Chronic: its development is progressive and not completely reversible Obstructive: it entails an obstruction of the air flow Pulmonary: it affects bronchial tubes and lungs It is an highly invalidating disease that leads to a progressive deterioration of the respiratory function, ob...
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Cystic Fibrosis (CF)

Brief Description Cystic Fibrosis (CF), also known as Mucoviscidosis (from "viscid mucus" due to the thick and adhesive secretions), is an inherited genetic disease characterized by the presence of dense and sticky mucus that tends to obstruct airways and pancreatic and biliary ducts, with progressive damage of the organs involved - bronchus, lungs, pancreas , liver, intesti...
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Spinal Cord Injuries

Brief Description The spinal cord is the main information pathway between the brain and the peripheral nervous system. A spinal cord lesion is a disruption of this communication caused by a traumatic injury or an illness and it involves the partial or total loss of voluntary movement and sensation below the injury. The severity of the injury is given by: The level of...
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Poliomyelitis

Brief Description Poliomyelitis is an acute, highly infectious viral disease that affects the nerve and can lead to partial or total paralysis causing irreversible neurological damage. The worldwide polio immunization program has allowed to eradicate the virus in most parts of the world, but the disease remains endemic in Afghanistan, Nigeria and Pakistan, and outbreaks h...
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Obstructive Sleep Apnoea Syndrome (OSAS)

Brief Description Obstructive Sleep Apnoea Syndrome causes the intermittent cessation of airflow while asleep, resulting in a decrease of oxygen levels while sleeping. Apnoeas or ipoaneas are described as a reduction of over 50% of the air flow. Causes Obstructive sleep apnoeas can be caused by anatomical or functional alterations of the upper airways and certai...
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