Medicine:Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
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| Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | |
|---|---|
| Other names | Kurukawa-Takagi-Nakao syndrome |
 | |
| Specialty | Medical genetics |
| Usual onset | Adolescence |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | none |
| Prognosis | Medium, nearing bad |
| Frequency | Very rare, only 10 cases have been described in medical literature. |
| Deaths | - |
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome, also known as Kurukawa-Takagi-Nakao syndrome is a very rare genetic disorder which is characterized by muscular atrophy, cerebellar ataxia, reduced sense of touch, retinal degeneration, and diabetes mellitus beginning in late childhood-early adolescence.[1][2] It is inherited in an autosomal dominant manner.[3] It has been described in 10 members from a large 4-generation Japan family (1986).[4][5]
References
- ↑ "Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus/.
- ↑ Diseases, Rare. "rarediseasesoscarnscuedu". https://rarediseases.oscar.ncsu.edu/disease/muscular-atrophy-ataxia-retinitis-pigmentosa-diabetes-mellitus-syndrome/about/.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579.
- ↑ "OMIM Entry - % 158500 - MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS" (in en-us). https://omim.org/entry/158500#1.
- ↑ Furukawa, Tetsuo; Takagi, Akio; Nakae, Kiku; Sugita, Hideo; Tsukagoshi, Hiroshi; Tsubaki, Tadao (1968-10-01). "Hereditary muscular atrophy with ataxia, retinitis pigmentosa, and diabetes mellitus: A clinical report of a family" (in en). Neurology 18 (10): 942–942. doi:10.1212/WNL.18.10.942. ISSN 0028-3878. PMID 5748751. https://n.neurology.org/content/18/10/942.
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