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Physical exams, blood tests, family history, biopsy, DNA testing. [6] Mutations in mitochondrial genes MT-TE , MT-TL1 , and MT-TK have been associated with MIDD. [ 1 ] The most common mutation is the 3243A>G transition in the mitochondrial tRNA-leucine 1 gene (MT-TL1).
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
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