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Sporadic late-onset nemaline myopathy. Other names. SLONM. Sporadic late-onset nemaline myopathy, or SLONM, is a very rare disease, one of the nemaline myopathies, causing loss of muscle bulk and weakness in the legs but sparing the cranial nerves, and beginning its clinical course after age 40. [1] It was first identified in 1966 at the Mayo ...
Neuromuscular disease. 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.
Myasthenia gravis is caused by autoantibodies to the postsynaptic acetylcholine receptors. Lambert–Eaton myasthenic syndrome ( LEMS) is a rare autoimmune disorder characterized by muscle weakness of the limbs. It is also known as myasthenic syndrome, Eaton–Lambert syndrome, and when related to cancer, carcinomatous myopathy. [ 2]
In 2002, Mayo Clinic researchers identified a humoral mechanism, targeting a perivascular protein, as the culprit of NMO, [26] and in 2004 an unknown specific autoantibody was found. [79] In 2005 they identified the aquaporin 4 protein as the target of the disease, and developed the first in-house test to aid in the diagnosis of NMO by ...
Primary lateral sclerosis ( PLS) is a very rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the ...
Congenital myasthenic syndrome ( CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction. The effects of the disease are similar to Lambert-Eaton Syndrome and myasthenia gravis, the difference being that CMS is not an autoimmune disorder. There are only 600 known family cases of this disorder ...
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 ...
Neurology, neuromuscular medicine. 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.