- Pelizaeus Merzbacher brain sclerosis
- Pelizaeus Merzbacher disease
On this page
There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Management typically involves a multidisciplinary team comprising specialists in neurology, physical medicine, orthopedics, pulmonary medicine, and gastroenterology. Management tactics may include gastrostomy for individuals with severe dysphagia; antiepileptic drugs (AEDs) for seizures; and routine management of spasticity including physical therapy, exercise, medications (baclofen, diazepam, tizanidine), orthotics, and surgery for joint contractures. Individuals with scoliosis benefit from proper wheelchair seating and physical therapy; surgery may be required in severe cases. Specialized education and assessments are generally necessary, and assisted communication devices may be helpful.
- NINDS Pelizaeus-Merzbacher Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2008; http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm. Accessed 7/20/2009.
- Garbern JY, Krajewski K, Hobson G. PLP1-Related Disorders. GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pmd. Accessed 7/20/2009.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- ClinicalTrials.gov lists trials that are studying or have studied Pelizaeus-Merzbacher disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.