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The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present. Clinical findings include ataxia, sensory neuropathy, and absence of the vestibulo-ocular reflex. The syndrome was initially described in 2004. [1] In 2019, the cause was identified as biallelic pentanucleotide expansion in the ...
[1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals. Because most people are not diagnostically trained or knowledgeable, they typically describe their symptoms in layman's terms, rather than using specific medical terminology. This list is not exhaustive.
Although less common, CPH may also present as severe unilateral ear pain accompanied by autonomic symptoms. [8] Autonomic symptoms may include the presence of red ear syndrome. [9] Attacks hit the patient many times a day, from 5 times a day up to 40 times a day with an average of 11 a day. Mild background pain can persist between attacks.
Reversible cerebral vasoconstriction syndrome (RCVS, sometimes called Call-Fleming syndrome) is a disease characterized by a weeks-long course of thunderclap headaches, sometimes focal neurologic signs, and occasionally seizures. [1] Symptoms are thought to arise from transient abnormalities in the blood vessels of the brain. [1]
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Posterior reversible encephalopathy syndrome (PRES), also known as reversible posterior leukoencephalopathy syndrome (RPLS), is a rare condition in which parts of the brain are affected by swelling, usually as a result of an underlying cause.
Blepharophimosis, ptosis, epicanthus inversus syndrome; Blind loop syndrome; Bloom syndrome; Blount's disease; Blue baby syndrome; Blue diaper syndrome; Blue rubber bleb nevus syndrome; Blue toe syndrome; Bobble-head doll syndrome; Body fat redistribution syndrome; Boerhaave syndrome; Bogart–Bacall syndrome; Bohring–Opitz syndrome; Bonnet ...
Macrocephaly is a condition in which circumference of the human head is abnormally large. [1] It may be pathological or harmless, and can be a familial genetic characteristic. . People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorde