Mitochondrial DNA Depletion Syndrome is not one but a set of genetically and clinically heterogeneous autosomal recessive disorders group. The most common symptoms here include mtDNA reduction that is associated with loss of energy, extreme feeling of fatigue, along with genetic mutations that can also be be encephalomyopathy, hepatocerebral or neurogastrointestinal in nature.
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?
There is no treatment for this disorder but medications to provide relief from some of the symptoms experienced could be prescribed.
DID YOU KNOW?
Mitochondrial DNA Depletion Syndrome progresses rapidly and rarely do people survive till adulthood.