Wolfram syndrome
Incidence
Has been reported as an autosomal recessive condition. It is due to deletion of mitochondrial DNA.
Clinical Characteristics
Wolfram syndrome is an association of diabetes mellitus, optic atrophy, deafness, mental retardation, external ophthalmoplegia, ataxia, extrapyramidal signs, and mild lactic acidosis. Diabetes is the first manifestation in the first decade of life, insulin dependent. It is followed in the second decade of life with visual and hearing loss in all cases. Anosmia may be present with tremor, ataxia, nystagmus, diabetes insipidus, and ptosis. Dilated urinary bladder may be present.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
DNAmt mutation (DB-W)