What is the Treatment for Pelizaeus Merzbacher Disease?

By  ,  Onlymyhealth editorial team
Oct 11, 2012
Quick Bites

  • There is no cure for pelizaeus merzbacher disease.
  • There is no treatment for pelizaeus merzbacher disease currently.
  • Antispasmodics may be prescribed to patients.
  • Regular physical evaluations needs to be taken by the orthopaedic.

Pelizaeus-Merzbacher disease is a rare, progressive disease that affects the central nervous system of a person. It is one of a group of gene-linked disorders that are called leukodystrophies. All the disorders in the group are characterised by myelin sheath abnormalities, which is due to mutation in the gene that controls the production of myelin protein that is called proteolipid protein 1 (PLP1).

Pelizaeus Merzbacher Disease


There really is no cure for the disease and it also does not have any treatment options for it, though the work is being done in the field of stem cell culture as a means to different pediatric disorders of myelin. The management is supportive in nature and it may include:

•    Physiotherapy as well as orthotic inputs so as to reduce joint dislocations, contractures and kyphoscoliosis from developing.
•    Genetic counseling and informing the parents of the prognosis of the disease.
•    Antispasmodics such as balofen and clonazepam
•    Regular physical evaluations or examinations by anorthopaedic; surgery may be needed in those cases where the contractures are severe.

Individuals who have been severely affected may need more attention on their airway protection as well as management of gastro-oesophageal reflux disease and anticonvulsants.


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