Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome explained
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome |
Synonyms: | Kurukawa-Takagi-Nakao syndrome |
Onset: | Adolescence |
Duration: | Lifelong |
Risk: | --> |
Prevention: | none |
Management: | --> |
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 Japanese family (1986).[4] [5]
Notes and References
- Web site: Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus - About the Disease - Genetic and Rare Diseases Information Center . 2022-06-03 . rarediseases.info.nih.gov . en.
- Web site: Diseases . Rare . rarediseasesoscarnscuedu . Rare disease oscar.
- Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus syndrome . 2022-06-03 . www.orpha.net . en.
- Web site: OMIM Entry - % 158500 - MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS . 2022-06-03 . omim.org . en-us.
- 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 . Neurology . en . 18 . 10 . 942–947 . 10.1212/WNL.18.10.942 . 0028-3878 . 5748751. 5930824 .