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Hyperekplexia (/ ˌhaɪ.pər.ɛkˈplɛk.si.ə /; "exaggerated surprise") is a neurological disorder characterized by a pronounced startle response to tactile or acoustic stimuli and an ensuing period of hypertonia. The hypertonia may be predominantly truncal, attenuated during sleep, or less prominent after one year of age.
Frequency. 1 in 1,000,000. Stiff-person syndrome (SPS), also known as stiff-man syndrome, [1] is a rare neurological disorder of unclear cause characterized by progressive muscular rigidity and stiffness. The stiffness primarily affects the truncal muscles and is characterised by spasms, resulting in postural deformities.
Genetic variants. Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. [ 1 ]
Post-exertional malaise (PEM), sometimes referred to as post-exertional symptom exacerbation (PESE) [1] or post-exertional neuroimmune exhaustion (PENE), [2] is a worsening of symptoms that occurs after minimal exertion. It is the hallmark symptom of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and common in long COVID and ...
Medication. Corticosteroids. Polymyalgia rheumatica (PMR) is a syndrome experienced as pain or stiffness, usually in the neck, shoulders, upper arms, and hips, but which may occur all over the body. The pain can be sudden or can occur gradually over a period. Most people with PMR wake up in the morning with pain in their muscles; however, cases ...
Gerstmann syndrome is a neurological disorder that is characterized by a constellation of symptoms [1] that suggests the presence of a lesion usually near the junction of the temporal and parietal lobes at or near the angular gyrus. Gerstmann syndrome is typically associated with damage to the inferior parietal lobule of the dominant hemisphere.
Wernicke encephalopathy (WE), also Wernicke's encephalopathy, [ 1 ] or wet brain is the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B 1). [ 2 ] The condition is part of a larger group of thiamine deficiency disorders that ...
Musical ear syndrome (MES) describes a condition seen in people who have hearing loss and subsequently develop auditory hallucinations. "MES" has also been associated with musical hallucinations , which is a complex form of auditory hallucinations where an individual may experience music or sounds that are heard without an external source. [ 1 ]