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Patient reviews for Doctors for Mitochondrial DNA Depletion Syndrome in Andul Road, Howrah
Ravi Verma's review for Dr. Diptanshu Das
He was friendly and cooperative. He took the trouble of explaining the situation very clearly to us. We have developed a strong... Read more reviews
MITOCHONDRIAL DNA DEPLETION SYNDROME
Mitochondrial DNA Depletion Syndrome is the term used to describe various disorders that could affect tissues in the liver, brain and muscle causing a decrease in mitochondrial DNA. Muscle weakness which could cause respiratory failure and liver dysfunction or liver disease have been observed in patients with this syndrome.
HOW IS MITOCHONDRIAL DNA DEPLETION SYNDROME DIAGNOSED?
Diagnosis of the same is done at an early age by a pediatrician who would examine the symptoms and also do blood tests to check for genetic mutations.
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?
In many cases, the death rate or mortality rate for such patients is on the higher side.