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ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare multisystem disease caused in humans by a genetic mutation of the SON gene.Common symptoms include developmental delay and often light to severe intellectual disability.
List of medical symptoms. Medical symptoms refer to the manifestations or indications of a disease or condition, perceived and complained about by the patient. [1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals.
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade's disease, [1] is an autosomal dominant [2] neurodegenerative disease.
The Sign of Hertoghe or Queen Anne's sign is a thinning or loss of the outer third of the eyebrows, and is a classical sign of hypothyroidism or atopic dermatitis, [1] [2] [3] but it can also be detected in lepromatous leprosy. [4]
These symptoms first start out with dysfunctions of the autonomic nervous system which result in symptoms such as abnormal functioning of both the bladder and bowel, recurrent blood pressure drops whenever patients stand up, and male erectile dysfunction. [8] [9] [10] Rarely, anhidrosis might also occur alongside these symptoms. [9] [8] [11] [10]
Cerebrotendinous xanthomatosis manifests in a variety of ways, including several organs and a wide spectrum of neurological and non-neurological symptoms. [3] For CTX patients, the average age of symptom onset is 19 years. [4] In patients with CTX, central nervous system symptoms and signs are frequently present and can serve as the first ...
In addition to hot flashes triggered by menopause-associated hormone changes, medical conditions such as urinary tract infections, migraines, neurological disorders like multiple sclerosis and ...
In 1924, [5] William Calvert Chaney (1888–1965), [6] who worked under Henry Woltman at the Mayo Clinic, seems to have been the first to publish a description of the sign, but Woltman had no authorship and was not mentioned in Chaney's manuscript.