Medicine:Hagemoser–Weinstein–Bresnick syndrome
From HandWiki
| Hagemoser–Weinstein–Bresnick syndrome | |
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| Hagemoser–Weinstein–Bresnick syndrome is inherited in an autosomal dominant manner |
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]
See also
- Leber's hereditary optic neuropathy
- Charcot–Marie–Tooth disease
References
- ↑ Hagemoser (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
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