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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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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Congenital Central Hypoventilation Syndrome (CCHS)

Brief Description Congenital Central Hypoventilation Syndrome (CCHS), also known as Ondine’s Syndrome, is a rare disease characterized by a nocturnal respiratory impairment. This is caused by the deficiency of the mechanisms in charge of the automatic control of breathing united to a dysfunction of the autonomic nervous system: children affected by CCHS show an adequate vent...
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