Pelizaeus-Merzbacher disease (PLP1)
X-kromoszómához kötött recesszív
Changes in PLP1, most often a duplication of the whole gene, cause nystagmus, low muscle tone and delayed motor development in boys, later followed by spasticity and ataxia; carrier females are usually unaffected or mildly affected.
Mit változtat a diagnózis
Diagnosis guides supportive care and allows carrier testing of female relatives.
Vizsgált gének
Más néven
diffuse familial brain sclerosis; HLD1; Pelizaeus Merzbacher disease; Pelizaeus-Merzbacher brain sclerosis; Pelizaeus-Merzbacher disease, X-linked recessive; PMD; Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
5 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- null syndrome
- Pelizaeus-Merzbacher disease in female carriers
- Pelizaeus-Merzbacher disease, classic form
- Pelizaeus-Merzbacher disease, connatal form
- Pelizaeus-Merzbacher disease, transitional form
