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Novel rare genetic type of mitochondrial disease. Progressive deafness becomes evident at age 3 to 5 years. Severe dysarthria and occasional bizarre posturing of head and neck are possible. Dystonia, spasticity, dysphagia and optic atrophy appear in adult life. Patients are prone to seizures and lactate acidosis.

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MTS; Dystonia-Deafness Syndrome; DDS; Deafness-Dystonia-Optic Atrophy Syndrome; DDP; Deafness Syndrome, Progressive, with Blindness, Dystonia, Fractures, and Mental Deficiency.

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There are few cases reported in the literature. Remains unknown.

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X-linked recessive inheritance; caused by a mutation on the TIMM8A (DDP) gene. A mutation in the same gene has been found as the cause of the Jensen syndrome.

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Pathologic changes are represented mainly by neuronal loss and glioses in the basal ganglia. This illness is a novel type of mitochondrial disease consisting of a defect in mitochondrial oxidative phosphorylation (OXPHOS), specifically caused by deficiencies in carrier proteins.

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Progressive deafness occurs at age 3 to 5 years. It is a progressive syndrome, which includes myopia, decreased visual acuity, and abnormal electroretinogram, leading to cortical blindness, dystonia, fractures, and mental deficiency. The female carrier showed signs of minor neuropathy and mild hearing impairment.

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No specific precautions; however, in comparison to the other mitochondrial illnesses, blood sugar level and electrocardiogram should be considered.

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Patients may develop lactic acidosis and seizure peroperatively.

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As reported with other mitochondrial diseases, use of neuromuscular blocking drugs is associated with significant implications, so careful monitoring is advisable.

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Jensen Syndrome (Opticoacoustic Nerve Atrophy with Dementia Syndrome): Characterized by profound sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. It is inherited as an X-linked recessive pattern. Extensive intracerebral calcification affecting meninges, vessels, and neurons has been reported. Moderate diffuse wasting of skeletal muscles is reported and should be carefully assessed before anesthesia.

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Mitochondrial Disease: Progressive multiorgan disease. The mitochondrial myopathies are a rare group of conditions affecting the respiratory chain and oxidative phosphorylation. A total of five proteins complexes make up the mitochondrial electron transport chain (see Complex Disease/Deficiency (Overview)).

Koehler CM, Leuenberger D, Merchant S, et al: Human deafness dystonia syndrome is a mitochondrial disease. Proc Nat Acad Sci U S A 96:2141, 1999.  [PubMed: 10051608]

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