Hagemoser–Weinstein–Bresnick syndrome is an autosomaldominant genetic disorder first described by Hagemoser et al. in 1989. It is characterized by optic atrophy followed shortly by loss of hearing and peripheral neuropathy. Onset of the disease occurred in early childhood, as opposed to the later onset of similar diseases. Optic atrophy occurs in the first year and the following symptoms show up before thirteen years.[1] A possible autosomal recessive form of this disease was described in 1970 by Iwashita et al.[2]
Hagemoser–Weinstein–Bresnick syndrome
Hagemoser–Weinstein–Bresnick syndrome is inherited in an autosomal dominant manner
^Hagemoser; et al. (1989). "Optic atrophy, hearing loss, and peripheral neuropathy". American Journal of Medical Genetics. 33 (1): 61–65. doi:10.1002/ajmg.1320330108. PMID 2665489.
^Iwashita, H.; Inoue, N.; Kuroiwa, Y. (1969). "Familial optic and acoustic nerve degeneration with distal amyotrophy". Lancet. 294 (7613): 219–220. doi:10.1016/s0140-6736(69)91462-7. PMID 4183781.
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hagemoser, weinstein, bresnick, syndrome, autosomal, dominant, genetic, disorder, first, described, hagemoser, 1989, characterized, optic, atrophy, followed, shortly, loss, hearing, peripheral, neuropathy, onset, disease, occurred, early, childhood, opposed, l. Hagemoser Weinstein Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al in 1989 It is characterized by optic atrophy followed shortly by loss of hearing and peripheral neuropathy Onset of the disease occurred in early childhood as opposed to the later onset of similar diseases Optic atrophy occurs in the first year and the following symptoms show up before thirteen years 1 A possible autosomal recessive form of this disease was described in 1970 by Iwashita et al 2 Hagemoser Weinstein Bresnick syndromeHagemoser Weinstein Bresnick syndrome is inherited in an autosomal dominant mannerSpecialtyOphthalmology otorhinolaryngology See also editLeber s hereditary optic neuropathy Charcot Marie Tooth diseaseReferences edit Hagemoser et al 1989 Optic atrophy hearing loss and peripheral neuropathy American Journal of Medical Genetics 33 1 61 65 doi 10 1002 ajmg 1320330108 PMID 2665489 Iwashita H Inoue N Kuroiwa Y 1969 Familial optic and acoustic nerve degeneration with distal amyotrophy Lancet 294 7613 219 220 doi 10 1016 s0140 6736 69 91462 7 PMID 4183781 External links edit nbsp This article about a medical condition affecting the nervous system is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Hagemoser Weinstein Bresnick syndrome amp oldid 1155355346, wikipedia, wiki, book, books, library,
