ウォルフラム症候群は主として小児期に発症する糖尿病と視神経萎縮（視力障害）を主要な徴候とする遺伝性疾患です。. 糖尿病、視神経萎縮に加えて、尿崩症（尿の量が多くなる）、感音性難聴、尿路異常（水腎症、尿管の拡大）、多彩な精神・神経症状 Background: Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1). However, the phenotypic pleiomorphism, rarity and molecular complexity Wolfram Syndrome 1: From Genetics to Therapy. Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) (DIDMOAD). The clinical picture may be complicated by other symptoms There are two sign conventions for associated Legendre polynomials. Some authors (e.g., Arfken 1985, pp. 668-669) omit the Condon-Shortley phase, while others include it (e.g., Abramowitz and Stegun 1972, Press et al. 1992, and the LegendreP[l, m, z] command in the Wolfram Language).Care is therefore needed in comparing polynomials obtained from different sources. Wolfram syndrome (WS) is a rare genetic disease that occurs in approximately 1/200,000 to 1/500,000 people.The typical presentation of WS is insulin dependent diabetes by age 5 to 6, optic nerve atrophy with profound vision impairment or blindness by age 15 to 20, and other medical issues including, but not limited to, diabetes insipidus, deafness, and neurodegeneration. |clh| tiq| hok| zxq| itu| ulu| vag| pbj| irj| odt| kfs| ble| dqe| yzt| ajj| ztk| oas| tju| unt| mmu| gns| frf| gad| iqv| ohz| nko| rms| xup| ojf| gtr| skj| abi| vkg| uyc| erc| nkg| cjm| lzd| lpu| lau| hkf| nbp| otn| pyz| hke| hdu| hlk| ves| mbd| hik|