Treatments & Monitoring

Treatments

Good treatments exist for many of the associated complications of Mitochondrial Disease, for example:

     - seizures can be managed with anti epileptic medications or the use of a ketogenic diet in some cases,

     - heart failure, cardiomyopathy or arrhythmias can be managed with medications, pacemakers or defibrillators, 

     - L-Arginine may be beneficial in the management of acute stroke

     - diabetes can be managed through careful diet and medication including insulin if required

     - droopy eyelids (ptosis) can be alleviated by corrective surgery,

     - endocrine dysfunctions can benefit from appropriate hormone replacement,

     - folinic acid supplements may be beneficial in patients with Kearns-Sayre syndrome

     - hearing loss can be restored or improved with the use of cochlear implants,

     - although transplantation of single organs is usually not appropriate (as most mitochondrial diseases involve multiple organ systems), there are uncommon circumstances in which specific organ transplantation may be considered. These include Liver Transplants in patients with some mitochondrial depletion syndromes (with no neurological involvement), Heart Transplants in some patients with isolated cardiomyopathy, or Kidney transplants.

    - Stem cell transplants in some MNGIE patients has given promising early results,

Supportive Therapies

The goal of supportive therapy is not to change the underlying Mitochondrial Disease, but to preserve and maintain strength, mobility, and functioning.

Physiotherapy, occupational, visual, speech and respiratory therapies can all be beneficial to mitochondrial patients.

Monitoring

Although it may not be possible to treat all of the primary causes of mitochondrial diseases, early intervention is likely to improve outcome.

In some cases (particularly in adults) patients may actually be in greater danger from treatable complications than from the Mitochondrial Disease itself so it is wise to ensure that people living with a mitochondrial disease should make sure their condition is actively monitored.

Regular appointments, blood counts, EEG's, ECG's, Echo's, MRI's, can all prove hugely valuable in catching changes early, allowing intervention and treatment where possible.