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The hallmark signs and symptoms of Pelizaeus–Merzbacher disease include little or no movement in the arms or legs, respiratory difficulties, and characteristic horizontal movements of the eyes left to right. [citation needed] The onset of Pelizaeus–Merzbacher disease is usually in early infancy.
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]
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...
Mutations in PLP1 are associated with Pelizaeus–Merzbacher disease. It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane. In a myelin sheath, as the layers of myelin wraps come together, PLP will bind itself and tightly hold the cellular membranes together.
Leukodystrophy is characterized by specific symptoms, including decreased motor function, muscle rigidity, and eventual degeneration of sight and hearing. While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset.
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
Symptoms of Peyronie’s Disease. The most apparent symptom of Peyronie’s disease is a deformity of the aroused privates, which can be a new curvature of the privates or a focal loss of aroused ...
Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor eIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5. The disease belongs to a family of conditions called the Leukodystrophies.