IllnessPelizaeus-Merzbacher disease

NGS +

Pelizaeus-Merzbacher disease (PMK; hypomyelinating leukodystrophy 2) destroys the myelin sheaths in the white matter of the central nervous system. The classic and connatal forms affect boys, both forms may overlap. The classic type is more common and begins in the first year of life with hypotonia, nystagmus and delayed development of motor skills. Usually, all development stalls in adolescence, and spasticity, ataxia, head/neck tremors, dystonia, and choreiform movements set in. Congenital PMK is more severe, with symptoms beginning in infancy with poor weight gain, slow growth, stridor, nystagmus, progressive dysarthria, severe ataxia, hypotonia, seizures and contractures. The mode of inheritance is X-linked recessive, and female mutation carriers show no or only less pronounced symptoms such as muscle rigidity and/or intellectual deficits. Causative mutations are detected in the PLP1 gene in at least 80-95% of cases, thus negative DNA test results do not exclude PMK with certainty.

References: https://www.ncbi.nlm.nih.gov/books/NBK470716/

https://www.ncbi.nlm.nih.gov/books/NBK1182/

• Alias: Diffuse familial brain sclerosis (PLP1)
• Alias: Leukodystrophy, hypomyelinating 1, 16 additional forms (PLP1)
• Alias: Pelizaeus-Merzbacher brain sclerosis (PLP1)
• Alias: Sudanophilic leukodystrophy, Paelizeus-Merzbacher type (PLP1)
• Allelic: Spastic paraplegia 2, XL (PLP1)
• Pelizaeus-Merzbacher disease (PLP1)