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Items: 4

1.

Pelizaeus-Merzbacher disease

PLP1-related disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Female carriers may manifest mild to moderate signs of the disease. [from GeneReviews]

MedGen UID:
61440
Concept ID:
C0205711
Disease or Syndrome
2.

Pelizaeus-Merzbacher disease, transitional form

The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term). [from ORDO]

MedGen UID:
199764
Concept ID:
C0751917
Disease or Syndrome
3.

Pelizaeus-Merzbacher disease, atypical

MedGen UID:
155958
Concept ID:
C0751915
Disease or Syndrome
4.

Pelizaeus-Merzbacher disease, classic form

MedGen UID:
155959
Concept ID:
C0751916
Disease or Syndrome
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