Pelizaeus-Merzbacher disease (PMD) is named after two German physicians: Dr. Pelizaeus, who in 1885 described five boys in a single family with involuntary oscillatory eye movement (nystagmus), spasticity in the limbs, floppiness and very limited head and trunk control, & delay in cognitive development; and Dr. Merzbacher, who in 1910, reexamined this family, which then included 14 affected individuals including two girls, & found that all affected family members shared a common female ancestor. In addition, he noted that the disease was passed exclusively through the female line without father-to-son transmission. View videos of PMD symptoms. The disease is one in a group of genetic disorders collectively known as leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the central nervous system. Children with PMD are unable to form myelin. This results in impaired language development & memory, delayed motor skills with poor coordination, & the inability to walk.
Pelizaeus–Merzbacher causes the brain to gradually lose myelin; the fat that surrounds nerves. This means the nerves first become progressively impaired, and then stop working altogether – a little like electrical cables that are stripped of their rubber insulation. The result of this, without any cure or treatment, is similar to motor neurone disease; progressive loss of movement, speech and senses, resulting in ultimate death.
The prognosis for those with Pelizaeus–Merzbacher disease is highly variable, with children with the most severe form (so-called connatal) usually not surviving to adolescence, but survival into the sixth or even seventh decades is possible, especially with attentive care. The course of the disorder is usually very slow, with some individuals reaching a plateau and remaining stable for years. However, some do worsen over time, for reasons that we do not understand, and will need further research. The cause of death is often pneumonia, choking on fluid that is stuck in the lungs, or inability to breathe due to paralysis.
Unfortunately, there is currently no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Gene therapy and cell transplantation are being explored as possible therapies. Read more about the potential treatments, current clinical trials, and see video of a PMD patient who recently received adult stem cell injections along with physical therapy, occupational therapy, electric wave therapy, and acupuncture here. For now, however, treatment is symptomatic and supportive, and may include medication for seizures and the stiffness or spasticity that most PMD patients have.
There is always hope as long as we continue to believe and fight to eliminate newborn diseases such as PMD through research, discovery and targeted treatment which will ultimately enhance the lives of countless children in the world. You can help right now just by telling your friends and family, or sending in your story, or submitting research and info about the disease. The more people know about PMD, the fewer children will suffer from this devastating disease. Learn more on how to help.