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GTR Home > Conditions/Phenotypes > Proximal myopathy with extrapyramidal signs

Proximal myopathy with extrapyramidal signs

Synonyms
Myopathy with extrapyramidal signs
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). Brain MRI in 1 patient showed congenital malformations, including polymicrogyria and cerebellar dysplasia (Wilton et al., 2020). [from OMIM]

Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CALC, CBARA1, EFHA3, MPXPS, ara CALC, MICU1
    Summary: mitochondrial calcium uptake 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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