hereditary myopathy with early respiratory failure

(redirected from Edstrom myopathy)

hereditary myopathy with early respiratory failure

An autosomal dominant adult-onset myopathy (OMIM:603689) characterised by early proximal weakness of the upper and lower extremities accompanied by respiratory muscle involvement, especially of the diaphragm.

Molecular pathology
Defects of TTN, which encodes a critical protein in striated muscle, cause hereditary myopathy with early respiratory failure.