- Pelizaeus Merzbacher disease
- Pelizaeus Merzbacher brain sclerosis
- Diffuse familial brain sclerosis
- Pelizaeus-Merzbacher brain sclerosis
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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.
- 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.