Mitochondrial DNA depletion syndrome (MDS) refers to a group of autosomal recessive disorders which cause the affected tissues to suffer from a significant drop in mitochondrial DNA and its subsequent dysfunction. It is marked by problems of the muscle, cardiac, and brain systems, the accompanying symptoms may vary in severity levels. The disease may be congenital or occur later in life. As the disorder worsens, the muscles that control breathing become weakened and affected individuals frequently have to rely on mechanical ventilation.
HOW IS MITOCHONDRIAL DNA DEPLETION SYNDROME DIAGNOSED?
Genetic testing is the most viable form of test available to diagnose the condition.
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?
Mitochondrial DNA Depletion Syndrome progresses rapidly and rarely do people survive till adulthood.