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GTR Home > Conditions/Phenotypes > Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease

Synonyms
LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Pelizeaus-Merzbacher spectrum disorder; Sudanophilic leukodystrophy
Modes of inheritance
X-linked recessive inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)

Summary

PLP1 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. Heterozygous females may manifest mild-to-moderate signs of the disease. [from GeneReviews]

Available tests

85 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (85 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2, PLP1
    Summary: proteolipid protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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