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Congenital myopathy 21 with early respiratory failure

Summary

Congenital myopathy-21 with early respiratory failure (CMYO21) is an autosomal recessive muscle disorder associated with diaphragmatic weakness and spinal rigidity. The age at symptom onset is highly variable, ranging from infancy to adulthood; the severity of the respiratory impairment, which can lead to death in the most severe cases, is also variable. Additional features, including developmental delay and hypertrophic cardiomyopathy, have been observed in one patient each (Weihl et al., 2023; Al-Kasbi et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMYO21, CMYP21, DNAJW, DjB4, HLJ1, DNAJB4
    Summary: DnaJ heat shock protein family (Hsp40) member B4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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