Pompe’s Disease

Pompe disease, also called Glycogen storage disease type II, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. Causes It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolis...
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Duchenne and Becker Muscular Dystrophies

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 are caused by a mutation o...
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Spinal Muscular Atrophy (SMA)

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 general, muscles...
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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. It causes the progressive loss of abilities such as swallowing (dysphagia), speech (dysarthria) and control over skeletal muscles, eventually leading to the impairment of respiratory mu...
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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. Any muscular dis...
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Multiple Sclerosis (MS)

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 of the symptoms as it ...
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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, obstructing the airways and...
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