Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | |
---|---|
Other names | Kurukawa-Takagi-Nakao syndrome |
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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 Japanese family (1986). [4] [5]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
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 Japanese family (1986). [4] [5]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)