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Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

Synonyms
Cerebral palsy, spastic quadriplegic, 1

Summary

Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances, episodic respiratory failure, and nonspecific dysmorphic facial features. The intellectual impairment is variable, ranging from poor visual contact with inability to walk or speak to milder intellectual disability with the ability to say some words. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination (summary by Husain et al., 2020). [from OMIM]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 4-HPPD-L, GLOXD1, NEDSWMA, SPG83, HPDL
    Summary: 4-hydroxyphenylpyruvate dioxygenase like

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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