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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.
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 ...
Patients usually present first with seizures within the first months of life, followed by infantile spasms which progress to epileptic seizures that are largely refractory to treatment. [ 2 ] [ 3 ] Development of gross motor skills , such as sitting, standing, and walking, is severely delayed, along with restricted fine motor skills . [ 4 ]
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]
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).
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]
Bainbridge–Ropers syndrome was first identified in 2013 and is characterized by failure to thrive, feeding problems, hypotonia, intellectual disabilities, autism, postnatal growth delay, abnormal facial features such as arched eyebrows, anteverted nares, and delays in language acquisition.
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons). [1]