deafness-dystonia-optic neuronopathy syndrome

A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport w

A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.

Signs and symptoms

• Mild intellectual disability
• Dystonia
• Postlingual sensorineural hearing impairment
• Intrinsic hand muscle atrophy
• Abnormal posturing
• Hyperreflexia
• Constriction of peripheral visual field
• Dysphagia
• Dysarthria
• Atypical behavior

Also known as: Deafness Dystonia Optic Atrophy Syndrome; Deafness Dystonia Optic Neuronopathy Syndrome; Dystonia Deafness Syndrome; Jensen syndrome; Mohr-Tranebjaerg syndrome