Pol III-Related Leukodystrophy

Summarized by Plex Health
Last Updated: 02 May 2022
neurogenic bladder and neuroendocrine abnormalities in pol iii-related leukodystrophy. "neurogenic bladder and neuroendocrine abnormalities in pol iii-related leukodystrophy.", by Potic A, Popovic V, Ostojic J, Pekic S, Kozic D, Guerrero K, Schiffmann R, Bernard G. Fig1: Magnetic resonance imaging (MRI) study in the patient with 4H leukodystrophy. (a) T1W (T1-weighted) axial scan of the brain indicating hypomyelination; (b) T2W (T2-weighted) scan of the brain and T2W-hypointensity of the globi pallidi;...

Pol III-related leukodystrophy is a disorder that affects the nervous system and other components of the body. Myelin shields nerve fibers and advertises the rapid transmission of nerve impulses. Pol III-related leukodystrophy is a hypomyelinating disease, which implies that the nervous system of affected people has a minimized capacity to form myelin. Hypomyelination underlies most of the neurological problems associated with Pol III-related leukodystrophy. A small number of people with this disorder have a loss of nerve cells in a part of the brain entailed in working with movements and underdevelopment of tissue that attaches the left and right halves of the brain. People with Pol III-related leukodystrophy usually have intellectual impairment varying from mild to severe, which progressively gets worse over time. Some affected individuals have normal intelligence in very early youth yet develop mild intellectual impairment throughout the course of the disease. In many cases the shake happens mainly during movement; other affected people experience the shake both during movement and at rest. In Pol III-related leukodystrophy, the teeth may not appear in the typical sequence, in which front teeth show up before back teeth. The teeth might be uncommonly formed. Some people with Pol III-related leukodystrophy have too much drool and difficulty ingesting or chewing, which can lead to choking. People with Pol III-related leukodystrophy usually have irregularities in eye movement, such as progressive upright look palsy, which is restricted up-and-down eye movement that gets worse with time. People with Pol III-related leukodystrophy might have various combinations of its signs and symptoms.

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