Rare Diseases: Progressive Multifocal Leukoencephalopathy

Progressive Multifocal Leukoencephalopathy, also known as PML, is a neurological disorder that affects the cells that produce myelin (better known as the white matter of the brain), the substance that envelops the neurons. The JC virus, commonly carried by most people, causes this rare disease on those with lowered immune defense systems.Patients going through immunosuppressive therapy for organ transplant, people afflicted with Hodgkin’s disease or lymphoma, people dealing with autoimmune conditions like rheumatoid arthritis, multiple sclerosis and patients being treated for systemic lupus erythematosis. PML is most commonly found on patients infected with HIV-1.  The rarity of this disease is considerable since, according to recent reports, it occurs in approximately 1 in every 200,000 people.

As the disease progresses, patients would experience sudden clumsiness; a deterioration of visual and speech capabilities; progressive weakness and on some cases even abrupt and sudden changes in personality and mood. These gradual deteriorations often lead to considerable brain damage. It can affect multiple parts of the brain and many functions can be directly affected, hence the term “Multifocal”. Early detection of PML is vital to minimize any risk of a fatal outcome or serious neurological disabilities. 
Although research is actively being made to treat PML, currently, there is limited treatment available. The best treatment is the reversal of the immune-deficient state, this is achieved by the use of plasma, and so the agents that could trigger PML can be removed quicker. On HIV positive patients, PML can be very aggressive if left untreated and could be fatal in just a matter of weeks, but patients taking HIV medications have demonstrated significant improvements. Enough to give researchers leads for potential treatments for this disease. So much so that currently there are advanced studies being performed on PML patients with the close tutelage of the FDA.
Research and Studies made by several institutes, are currently being done in order to detect, prevent, treat and hopefully cure PML. Organizations such as www.globalgenes.org are crucial in raising awareness on disorders such as PML, as well as providing information and support to families who are dealing with such ailments. 
If you or one of your loved ones has a compromised immune system, and they start to experience subtle weakness on your extremities, constant headaches, inability to concentrate or difficulties thinking, lack of coordination and increasingly deficient motor skills, sudden changes on your vision or speech and even seizures, consult with your doctor.PML can be detected by a number of tests, such as lumbar puncture and MRI (Magnetic Resonance Imaging) scans. 

Related Read: Rare Diseases: Paraneoplastic Neurologic Syndromes