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The differing functions of these proteins are the cause of pathological changes, which in turn cause the disease symptoms. The Huntington's disease mutation is genetically dominant and almost fully penetrant; mutation of either of a person's HTT alleles causes the disease. It is not inherited according to sex, but by the length of the repeated ...
VT causes syncope and can result in sudden death. [20] Ventricular tachycardia, which describes a heart rate of over 100 beats per minute with at least three irregular heartbeats as a sequence of consecutive premature beats, can degenerate into ventricular fibrillation , which is rapidly fatal without cardiopulmonary resuscitation (CPR) and ...
Huntington's disease is a neurodegenerative disease and most common inherited cause of chorea. The condition was formerly called Huntington's chorea but was renamed because of the important non-choreic features including cognitive decline and behavioural change.
This can cause ambulation impairment, such as trouble climbing stairs or maintaining balance. Gait abnormality is also common in persons with nervous system problems such as cauda equina syndrome , multiple sclerosis , Parkinson's disease (with characteristic Parkinsonian gait ), Alzheimer's disease , vitamin B 12 deficiency , myasthenia gravis ...
The disease is characterized by inflammation of the airways and patients will commonly present with coughing, shortness of breath and wheezing. Asthma in children is typically triggered by environmental antigens, allergies, viral respiratory infections, fumes, obesity, and emotional factors including stress. [10] [11]
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.
Parkinson's Disease causes constipation and gastric dysmotility that is severe enough to endanger comfort and even health. [26] A factor in this is the appearance of Lewy bodies and Lewy neurites even before these affect the functioning of the substantia nigra in the neurons in the enteric nervous system that control gut functions.
A number of studies implicate the combination of high cyanide intake from bitter cassava and low intake of sulfur amino acids as the cause. It has now been shown that the month by month incidence of konzo is significantly correlated with the percentage of children with high urinary thiocyanate content, which is a measure of their cyanide intake.