Pelizaeus-Merzbacher disease - LEUKOTREAT, therapeutic strategies for leukodystrophy affected patients

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Last update : 09/02/2015

Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher Disease (PMD) is a rare, inherited condition involving the central nervous system (brain and spinal cord).

Children with PMD are unable to form myelin. As a result, children have impaired function in language development and memory, delayed motor skills seen as poor coordination and the inability to walk. Symptoms can begin in infancy and include problems with feeding, muscle weakness (hypotonia), involuntary eye movements (nystagmus), muscle stiffness (spasticity), problems with movement and balance (ataxia) and seizures.

Pelizaeus-Merzbacher Disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein (PLP). PMD is inherited as an X-linked recessive trait, which means that the affected children are male and the mothers are the carriers of the PLP mutation. Currently there is no cure for PMD and there is no standard course of treatment apart from supportive care of the child’s symptoms, including medications for seizure control.

For detailed information about PMD, read the corresponding review on the NCBI website (National Centre for Biotechnology Information).