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GTR Home > Conditions/Phenotypes > Multiple mitochondrial dysfunctions syndrome 5

Multiple mitochondrial dysfunctions syndrome 5

Summary

ISCA1-related multiple mitochondrial dysfunctions syndrome (ISCA1-MMDS) is a severe neurodegenerative condition typically characterized by either no attainment of developmental milestones or very early loss of achieved milestones, seizures in early infancy, development of spasticity with exaggerated deep tendon reflexes, nystagmus, and risk for sensorineural hearing loss. Affected individuals may also demonstrate elevated blood lactate levels with an elevated lipid-lactate peak on brain MR spectroscopy. Further brain MRI findings may include extensive cerebral and cerebellar deep white matter hyperintensities, marked dilatation of the cerebral ventricles, and pachygyria. Prognosis is poor and most individuals succumb to an intercurrent illness in early childhood. [from GeneReviews]

Available tests

9 tests are in the database for this condition.

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Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HBLD2, ISA1, MMDS5, hIscA, hIscA1, ISCA1
    Summary: iron-sulfur cluster assembly 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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