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Life expectancy may be shortened by respiratory complications arising from weakness of the muscles that aid breathing and swallowing. It was first described in four patients by Vucic and colleagues [ 3 ] working at the Massachusetts General Hospital in the United States ; subsequent reports from the United Kingdom, [ 4 ] Europe and Asia [ 5 ...
Corticobasal degeneration (CBD) is a rare neurodegenerative disease involving the cerebral cortex and the basal ganglia. [1] CBD symptoms typically begin in people from 50 to 70 years of age, and typical survival before death is eight years.
Onychomadesis has been linked to autoimmune diseases, [7] physical trauma, pharmacological side effects, and viral infections, [8] especially coxsackieviruses. [9] However, in certain cases, the cause remains unknown. Athletes, especially runners, may be more likely to experience toenail involvement. [10]
The median life expectancy is around 9 years, and the average life expectancy is 16.3 years. [1] The causes of death are attributed to respiratory complications in the late stage of the disease (e.g. pneumonia), neurological complications (e.g. drug resistant epilepsy), and cardiac events. [10] [11]
The brain can be affected in several ways in this syndrome. Some children are born with structural brain anomalies such as cortical dysplasia or polymicrogyria . While developmental delay is nearly universal in this syndrome it is variable in severity, with the majority having mild to moderate delays and a minority having severe cognitive ...
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. Treatment options are limited, although hematopoietic stem cell transplantations using bone marrow or cord blood seem to help in certain leukodystrophy types, while ...
The disease has had no apparent effect on the twins' brains or personalities. Doctors do not know if the disease is fatal and, if so, what the life expectancy of one with this disease is. If the cause of the disease is genetic, there is a chance that the twins could pass it on to their future children. [7]
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).