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.
MTS; Dystonia-Deafness Syndrome; DDS;
Deafness-Dystonia-Optic Atrophy Syndrome; DDP; Deafness Syndrome,
Progressive, with Blindness, Dystonia, Fractures, and Mental Deficiency.
There are few cases reported in the literature. Remains unknown.
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.
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
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.
No specific precautions; however, in
comparison to the other mitochondrial illnesses, blood sugar level and
electrocardiogram should be considered.
Patients may develop lactic acidosis and
As reported with other mitochondrial
diseases, use of neuromuscular blocking drugs is associated with significant
implications, so careful monitoring is advisable.
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
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