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Disease Information

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Neuromuscular Diseases
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...

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...

Myasthenia Gravis (MG)

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 exhaustion...

Amyotrophic Lateral Sclerosis (ALS)

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...

Respiratory Diseases
Chronic Obstructive Pulmonary Disease (COPD)

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...

Cystic Fibrosis (CF)

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, intestines.

Spinal Cord Diseases
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...

Poliomyelitis (Polio)

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

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