Pelizaeus-Merzbacher syndrome (PMD / Pelizaeus-Merzbacher disease) is an inherited disease that causes demyelination of the central nervous system, which means that the nerves lose their covering and the conduction of nerve impulses is damaged.
The disease was first described by the German neurologist Friedrich Christoph Pelizaeus in 1885 (Pelizaeus, 1885) and later independently also by the German neuropathologist and psychiatrist Ludwig Merzbacher in 1910 (Merzbacher, 1910). The cause of this disease was discovered much later - in the 20th century. Diagnosis of the disease is mainly based on symptoms and molecular examination (PLP1 gene mutation). Furthermore, there are abnormal results of magnetic resonance imaging, auditory and visual evoked potentials. The disease has 2 forms, the first appears from 2 months of age, the second only later in childhood and adolescence.
Pelizaeus-Merzbacher syndrome is currently an incurable disease and therefore currently without a known causal treatment. Only symptomatic treatment can help those affected - for example, rehabilitation, early stimulation or surgical interventions to solve stridor or scoliosis.
