Presentation
Pelizaeus-Merzbacher disease is divided into classic and connatal (present from birth) types. Although these two types differ in severity, their features can overlap. Classic Pelizaeus-Merzbacher disease is the more common type. [medlineplus.gov]
Entire Body System
- Movement Disorder
As the condition worsens, nystagmus usually goes away but other movement disorders develop, including muscle stiffness (spasticity), problems with movement and balance (ataxia), head and neck tremors (titubation), involuntary tensing of the muscles (dystonia [medlineplus.gov]
Neurologic
- Spastic Paraplegia
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005;6:1-16. Wolf NI et al. [rarediseases.org]
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. Epub 2004 Dec 31. Review. Citation on PubMed Laukka JJ, Kamholz J, Bessert D, Skoff RP. [medlineplus.gov]
- Nystagmus
Within the first year of life, those affected with classic Pelizaeus-Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of motor skills, such as sitting or grasping [medlineplus.gov]
- Seizure
Symptoms can begin in infancy and include problems with feeding, poor weight gain and slow growth, high-pitched breathing caused by an obstructed airway (stridor), nystagmus, progressive speech difficulties (dysarthria), severe ataxia, hypotonia, and seizures [medlineplus.gov]
- Ataxia
Symptoms can begin in infancy and include problems with feeding, poor weight gain and slow growth, high-pitched breathing caused by an obstructed airway (stridor), nystagmus, progressive speech difficulties (dysarthria), severe ataxia, hypotonia, and [medlineplus.gov]
Treatment
Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1. J Hum Genet. 2019;64:665-671. Margraf RL, et al. [rarediseases.org]
Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009; 15:319-28, http://dx.doi.org/10.1097/NRL.0b013e3181b287c8 [ Links ] 15. Yang E, Prabhu SP. [scielo.org.mx]
Prevention
Still other mutations delete the PLP1 gene, which prevents proteolipid protein 1 and DM20 protein production and results in a lack of these proteins in the cell membrane, which causes any myelin that is formed to be unstable and quickly broken down. [medlineplus.gov]