Pelizaeus-Merzbacher Disease is a rare genetic disorder that affects the central nervous system. The disorder basically impacts the white matter of the brain and spinal cord causing abnormalities such as involuntary muscle spasms, impaired ability to coordinate movements, late onset of motor abilities and progressive decline of intellectual ability.The signs of the classical form of PMD usually begin during early infancy, typically before 2 months of age.
HOW IS PELIZAEUS-MERZBACHER DISEASE DIAGNOSED?
A General Physician/Homeopath diagnoses Pelizaeus-Merzbacher Disease by a thorough clinical evaluation, detailed patient history and a number of tests such as MRI.
HOW IS PELIZAEUS-MERZBACHER DISEASE TREATED?
Treatment may include gastrostomy for dysphagia, antiepileptic drugs for seizures, physical therapy with antispasticity drugs (baclofen, diazepam, tizanidine) for spasticity, or corrective surgery for pulmonary compromise in case of severe scoliosis. Regular surveillance is necessary. Management is multidisciplinary and involves neurologists, physical therapists, orthopedic doctors, pulmonologists, and gastroenterologists.
DID YOU KNOW?
PMD has a progressive course that varies depending on the phenotype. In the most moderate forms, life expectancy is quite long and the disease progresses slowly after adolescence. In the most severe forms, death usually occurs by the second decade.