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Flynn–Aird syndrome
Flynn–Aird syndrome is a rare, hereditary, neurological disease that is inherited in an autosomal dominant fashion. The syndrome involves defects in the nervous, auditory, skeletal, visual, and endocrine systems and encompasses numerous symptoms, bearing striking similarity to other known syndromes of neuroectodermal nature such as: Werner syndrome, Cockayne syndrome and Refsum syndrome.
The onset of Flynn–Aird syndrome typically occurs between ten and twenty years of age, however, the earliest case was diagnosed at age seven. As the syndrome progresses, initial symptoms tend to intensify and new symptoms become apparent. Unlike related syndromes and despite the intensity of symptoms in the disease progression, Flynn–Aird syndrome does not appear to shorten life expectancy.
The disease is characterized by early-onset dementia, ataxia, muscle wasting, skin atrophy, and eye abnormalities. In addition, patients have the potential of developing a number of other related symptoms such as: cataracts, retinitis pigmentosa, myopia (nearsightedness), dental caries, peripheral neuropathy (peripheral nerve damage), deafness, and cystic bone changes. This syndrome was first discovered in the early 1950s by American neurologists P. Flynn and Robert B. Aird who analyzed one family lineage inheritance pattern of this disease.〔
==History==
P. Flynn and Robert B. Aird observed this neuroectodermal syndrome after studying one family whose members suffered a number of neurological symptoms that were consistent from generation to generation. A number of the symptoms overlapped with several known neurological diseases such as Werner syndrome, Refsum syndrome, and Cockayne syndrome, which could be indicative of similar causative origins. However, these syndromes are recessively inherited as opposed to the dominant inheritance seen in the family studied by P. Flynn and Robert B. Aird. About 15% of family members exhibited full-blown symptoms characteristic of the disease while others showed some symptoms that overlapped with the general clinical manifestation of the syndrome.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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