caused by a mutation in mitochondrial DNA (3243 tRNA)
mitochondrial DNA is contributed to the embryo by the oocyte and not by spermatozoa, and therefore this disease is inherited from maternal family members only
diabetes is a non insulin dependent type that usually presents before the age of 40 years
due to a defect in beta cell function with normal insulin sensitivity
associated deafness is sensorineural and develops in most of the diabetic subjects
hearing loss is variable
of these diabetic patients carrying the mitochondrial DNA mutation at position 3243, 75% experience sensorineural hearing loss
associated hearing loss with diabetes is typically more common and more quickly declining in men than in women
MIDD may have other multi-organ features: for example, elevated serum lactate, neuromuscular and cardiac problems, pigmented retinopathy, and nephropathy with proteinuria
Reference:
Murphy R et al. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet. Med. 2008, 25(4),383-99.
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