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A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), [a] the neuromuscular junctions, or skeletal muscles, all of which are components of the motor unit. [4] Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or ...
Myasthenia gravis ( MG) is a long-term neuromuscular junction disease that leads to varying degrees of skeletal muscle weakness. [ 1] The most commonly affected muscles are those of the eyes, face, and swallowing. [ 1][ 5] It can result in double vision, drooping eyelids, and difficulties in talking and walking. [ 1]
Neuromyotonia ( NMT) is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. NMT along with Morvan's syndrome are the most severe types in the Peripheral Nerve Hyperexciteability spectrum. Example of two more common and less severe ...
The neuromuscular junction is a specialized synapse between a neuron and the muscle it innervates. It allows efferent signals from the nervous system to contract muscle fibers causing them to contract. In vertebrates, the neuromuscular junction is always excitatory, therefore to stop contraction of the muscle, inhibition must occur at the level ...
Spinal and bulbar muscular atrophy ( SBMA ), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function. [ 2][ 3] In men, the disease ...
Progressive muscular atrophy ( PMA ), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function. PMA is classified among motor neuron diseases (MND) where it is thought to account for around 4% of ...
Myopathy. In medicine, myopathy is a disease of the muscle [ 1] in which the muscle fibers do not function properly. Myopathy means muscle disease ( Greek : myo- muscle + patheia -pathy : suffering ). This meaning implies that the primary defect is within the muscle, as opposed to the nerves ("neuropathies" or "neurogenic" disorders) or ...
1 in 10,000 (Finland) - 1 in 100,000 (worldwide) Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder. The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles ( myotonia ...