● Brain imaging that may be indicated in individuals with neurologic signs or symptoms but not usually in individ- uals lacking such neurological features. ● Audiologic assessment, recommended when disorders with hearing loss are included in the differential diagnosis list. ● Clinical molecular ...
Other Rare Hereditary Disorders of Lipid Metabolism - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer Version.
Neurologic disorders and the potential manifestation of cerebral edema remain a rarity in patients with HAE. Although atypical, urinary symptoms mimicking an infection have been described, and in 1 patient, the presence of bladder edema was documented by endoscopy and biopsy.24., 48. Pulmonary ...
Moreover, chronic consumption of small amounts of fructose results in long-term effects (feeding difficulties, occasional vomiting, hepatic disorders and growth retardation) and, in some cases, even persistent symptoms, such as nonalcoholic fatty liver disease (NAFLD), hepatomegaly [1, 2] and ...
Finally, our study indicates that the ApoA-I amyloidosis should be included in the list of the dominant hereditary tubulointerstitial disorders. The diagnosis represents a challenge, as the disease is indistinguishable, on clinical grounds, from other forms of hereditary tubulointerstitial nephritis, ...
Mutations in LMNA account for 10% of hereditary DCM and up to 33% atrioventricular conduction disorders in DCM [2]. LMNA gene encodes lamin A/C which is widely expressed in various cells. In addition to the structural and supportive function in the nucleus, lamin A/C participates the ...
26K Neurological disorders are diseases that affect an individual's brain or cognition. Review a list of common problems such as dementia, epilepsy, stroke, multiple sclerosis (MS), Parkinson's, and dangerous infections, then explore descriptions of each type of disease. Related...
Institutes of Health (NIH) Rare Diseases Clinical Research Network (RDCRN), supported through collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), and the National Institute of Neurological Disorders and Stroke (NINDS...
This intrafamiliar variability in age of onset and/or severity of symptoms is a well-known phenomenon for dominant diseases. For example, this was also observed for other dominant hypomagnesemia disorders, such as the families with an FXYD2 mutation.9,30 The mechanism(s) underlying this phenomeno...
However, compared with many genetic disorders, the ethical issues surrounding genetic testing for HHT are less complex. The disorder is very difficult to diag- nose based on clinical examination and medical history in the first few decades of life, and there is no "nongenetic" diagnostic ...