Preferred Label : Hereditary myopathy with early respiratory failure;
ICD-11 definition : Hereditary myopathy with early respiratory failure is an adult-onset progressive myopathy
characterised by early presentation of respiratory insufficiency usually during ambulant
stage. Pathologically, it shares features of myofibrillar myopathy besides the key
finding of cytoplasmic bodies. Its causative gene TTN, which encodes a gigantic protein
titin, is known to be causative also for tibial muscular dystrophy, limb girdle muscular
dystrophy type 2J, early-onset myopathy with fatal cardiomyopathy and dilated or hypertrophic
cardiomyopathy.;
ICD-11 synonym : Edström myopathy; HMERF - [hereditary myopathy with early respiratory failure];
ICD-11 acronym : HMERF;
Origin ID : 116175357;
Automatic exact mappings (from CISMeF team)
Hereditary myopathy with early respiratory failure is an adult-onset progressive myopathy
characterised by early presentation of respiratory insufficiency usually during ambulant
stage. Pathologically, it shares features of myofibrillar myopathy besides the key
finding of cytoplasmic bodies. Its causative gene TTN, which encodes a gigantic protein
titin, is known to be causative also for tibial muscular dystrophy, limb girdle muscular
dystrophy type 2J, early-onset myopathy with fatal cardiomyopathy and dilated or hypertrophic
cardiomyopathy.
