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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.
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 the eye (ocular MG ...
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 ...
Nemaline myopathy. Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. The severity of these symptoms varies and can change throughout one's ...
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low ...
trigeminal sensory neuropathy. numb chin syndrome. numb cheek syndrome. herpes simplex virus infection. facial nerve. bell's palsy. bilateral facial palsy. congenital (trauma, Mobius syndrome, cardiofacial syndrome) glossopharyngeal nerve.
Optic neuropathy is damage to the optic nerve from any cause. The optic nerve is a bundle of millions of fibers in the retina that sends visual signals to the brain. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. The main symptom is loss of vision, with colors appearing subtly washed out ...
First being described and identified in 1985, Wieacker-Wolff syndrome is a rare, slowly progressive, genetic disorder present at birth and characterized by deformities of the joints of the feet, muscle degeneration, mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. [1]