Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

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]

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Other namesKurukawa-Takagi-Nakao syndrome
SpecialtyMedical genetics
Usual onsetAdolescence
DurationLifelong
CausesGenetic mutation
Preventionnone
PrognosisMedium, nearing bad
FrequencyVery rare, only 10 cases have been described in medical literature.
Deaths-

References

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  1. ^ "Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-03.
  2. ^ Diseases, Rare. "rarediseasesoscarnscuedu". Rare disease oscar.
  3. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus syndrome". www.orpha.net. Retrieved 2022-06-03.{{cite web}}: CS1 maint: numeric names: authors list (link)
  4. ^ "OMIM Entry - % 158500 - MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS". omim.org. Retrieved 2022-06-03.
  5. ^ 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. 18 (10): 942–947. doi:10.1212/WNL.18.10.942. ISSN 0028-3878. PMID 5748751. S2CID 5930824.