Catalog

Hereditary myopathy with early respiratory failure

No MMS code

Link to WHO Definition

Hereditary myopathy with early respiratory failure – http://id.who.int/icd/entity/116175357

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.