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Ocular myasthenia. Ocular myasthenia gravis (MG) is a disease of the neuromuscular junction resulting in hallmark variability in muscle weakness and fatigability. MG is an autoimmune disease where anomalous antibodies are produced against the naturally occurring acetylcholine receptors in voluntary muscles. MG may be limited to the muscles of ...
Chronic progressive external ophthalmoplegia ( CPEO) is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. [ 1] It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease, CPEO occurs as ...
Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery. Symptoms of CNM include severe hypotonia, hypoxia -requiring breathing assistance, and scaphocephaly. Among centronuclear myopathies, the X-linked ...
A cramp is a sudden, involuntary, painful skeletal muscle contraction of skeletal muscle, and common in motor neuron disorders. Bulbar symptoms (weakness of the facial and tongue muscles) typically follow limb manifestations and may start with difficulty with speech articulation ( dysarthria) before swallowing difficulty ( dysphagia ). [ 3][ 5 ...
Sudden acquired retinal degeneration syndrome. Sudden acquired retinal degeneration syndrome ( SARDS) is a disease in dogs causing sudden blindness. It can occur in any breed, but female dogs may be predisposed. [1] Approximately 4000 cases are seen in the United States annually. [2]
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]
Leber's hereditary optic neuropathy ( LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects young adult males. LHON is transmitted only through the mother, as it is primarily due ...