- Pelizaeus Merzbacher disease
- 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 made of 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, botulinum toxin), orthotics, and surgery for joint contractures. Individuals with scoliosis may benefit from proper wheelchair seating and physical therapy, with surgery reserved for the most 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). October 22, 2012; http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm.
- What is Pelizaeus-Merzbacher Disease (PMD)?. Pelizaeus-Merzbacher Disease (PMD) Foundation. 2014; http://pmdfoundation.org/what-is-pmd/.
- Hobson G, Kamholtz J. PLP1-Related Disorders. GeneReviews. February 28, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1182/.
- 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.