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MITOCHONDRIAL DNA DEPLETION SYNDROME
Mitochondrial DNA Depletion Syndrome is an autosomal recessive disorder that is characterized by a severe reduction in the mtDNA content that can lead to impaired energy production in the body thereby affecting tissues and organs. This condition is caused by mutation in the nuclear genes. The symptoms of the condition vary from being myopathy, hepatopathy to encephalomyopathy.
HOW IS MITOCHONDRIAL DNA DEPLETION SYNDROME DIAGNOSED?
Affected individuals with MDS should have an extensive evaluation to understand the involvement of different organs, including the neuromuscular, hepatic, gastrointestinal, cardiac, and renal systems. Patients show neuromuscular manifestations, therefore, a neurology consultation with comprehensive neurologic examination and developmental/cognitive assessment are mandatory. The following diagnostic modalities can be used to assess the degree of neurological involvement: neuroimaging EMG to assess myopathy, and electroencephalography if seizures are suspected. A thorough ophthalmologic and hearing evaluation is also required. Echocardiogram and electrocardiogram are needed to determine cardiac involvement.
HOW IS MITOCHONDRIAL DNA DEPLETION SYNDROME TREATED?
Treatment is directed mainly toward providing symptomatic management. Nutritional modulation and cofactor supplementation may be beneficial. Liver transplantation remains controversial. Finally, stem cell transplantation in MNGIE disease shows promising results. Seizures are common features in MDS with neurological involvement. Seizure control with antiepileptic medications is the goal of treatment, however, refractory epilepsy may be very difficult to control. Physical therapy can help maintain muscle function and prevent joint contractures. Respiratory insufficiency can benefit from chest physiotherapy, aggressive antibiotic treatment of chest infections, and artificial ventilation that could include assisted nasal ventilation or intubation, and the use of a tracheostomy and ventilator. Other treatment options include bracing to treat scoliosis or kyphosis, surgery for ptosis, and cochlear implantation for sensorineural hearing loss.
DID YOU KNOW?
The condition is usually fatal in infants. However, some children survive till their teenage years with myopathy. Very few survive till adulthood. Respiratory failure is the most common form of death in the affected individuals.