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Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. [4] There are several non-specific and vague signs and symptoms associated with amyloidosis. [5] These include fatigue, peripheral edema, weight loss, shortness of breath, palpitations, and feeling faint with standing. [5]
Wild-type transthyretin amyloid (WTTA), also known as senile systemic amyloidosis (SSA), [1] is a disease that typically affects the heart and tendons of elderly people. It is caused by the accumulation of a wild-type (that is to say a normal) protein called transthyretin.
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.
Eagle syndrome (also termed stylohyoid syndrome, [1] styloid syndrome, [2] stylalgia, [3] styloid-stylohyoid syndrome, [2] or styloid–carotid artery syndrome) [4] is an uncommon condition commonly characterized but not limited to sudden, sharp nerve-like pain in the jaw bone and joint, back of the throat, and base of the tongue, triggered by swallowing, moving the jaw, or turning the neck. [1]
Recognition of the importance of this disorder as a cause of adult onset dementia and movement disorders was further heightened in 1997 at the Mayo Clinic when Dr. Zbigniew K. Wszolek identified a family with HDLS that was initially thought to be due to another disease process (FTDP-17), but only an autopsy of one and then other family members ...
In 1995, the group led by Knowlton did a "high-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12." [28] Research on COMP led to mouse models of the pathology of MED. In 2002, Svensson's group generated a COMP-null mouse to study the COMP protein in vivo.
The diagnosis is confirmed through genetic testing. Physicians will obtain a blood or saliva sample for genetic testing which looks for a deletion within the NSD1 gene or a heterozygous pathogenic variant of the gene. [10] If there is clinical suspicion of Sotos syndrome in a fetus, physicians may perform genetic testing on the fetus. [14]
Like any other disease, treatment for cerebellar degeneration is contingent on the underlying cause, unique to each patient. As of present time, hereditary forms of cerebellar degeneration are incurable, though they can be managed. Management is centred around coping with symptoms and improving a patient's quality of life.