User:Luhizi/FLYNN AIRD proposal

Project: Our group will research the characteristics of the neuroectodermal disorder, Flynn Aird syndrome. Goals: Throughout our study we will attempt to bring the current Wikipedia page on the disorder up to date with: the clinical manifestations of the disorder, history of the syndrome, causes, genetics, pathophysiology, prognosis, diagnosis, management of symptoms, and future research directions.

Description: The Flynn Aird syndrome involves defects in the nervous, ectodermal, skeletal, and glandular systems*cite*, and encompasses a great number of symptoms, bearing great similarity to known syndromes such as: Werner’s syndrome, Cockayne’s syndrome, and Refsum’s syndrome.

The age of onset for this disorder is primarily in the second decade of life, however severely affected individuals show stigmata of the condition by as early as age seven. The disorder is characterized by dementia, ataxia, episodes of aphasia, severe myopia, early nerve deafness, peripheral neuritis, skin atrophy, bilateral cataracts, and joint stiffness.Eye defects manifesting as severe myopia, total blindness, bilateral cataracts and retinitis pigmentosa.High instances of muscular wasting and poor physical development found in all cases.Skeletal deformity and osteoporosis in the majority. Lab test show normal blood studies, urine analyses and serology. Regular CSF fluid testing. Disease progression

It is thought to be a dominant heritable disorder as opposed to the recessive inheritance characteristic of other neurological diseases.

Cerebral suggest would suggest mental retardation and atypical convulsive phenomena. However no direct impairment of intelligence has been determined by psychometric studies.

We will be using the original Flynn Aird Syndrome publication from J. neurol Sci. (1965) 2: 161-182