The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This r...

Myofibrillar myopathies (MFMs) are typically autosomal dominant myopathies with late onset progressive muscle weakness and symptoms initially evident in the distal muscle groups. However, there is a significant variability in the presentation of these diseases, with the age of onset ranging from infantile to late seventies; the involvement of the heart, respiratory muscles, distal or proximal m...

Protein aggregate myopathies (PAMs) based on the morphologic phenomenon of aggregation of proteins within muscle fibers may occur in children (selenoproteinopathies, actinopathies, and myosinopathies) or adults (certain myofibrillar myopathies and myosinopathies). They may be mutation related, which includes virtually all childhood forms but certain other forms as well, or sporadic, which are l...

The idiopathic inflammatory myopathies are uncommon and heterogeneous disorders. Their classification is based on distinct clinicopathologic features. Although idiopathic inflammatory myopathies share some similarities, different subtypes may have variable responses to therapy, so it is very important to distinguish the correct subtype. There are few randomised, double blind placebo controlled ...

BACKGROUND Though not obvious at a first glance, myopathies may be associated with ischemic stroke. Stroke-like episodes resemble ischemic stroke only to some extent but are a unique feature of certain mitochondrial disorders with a pathogenesis at variance from that of ischemic stroke. Only limited data are available about ischemic stroke in pri-mary myopathies and the management of stroke-lik...

Diagnosis of inflammatory myopathy are usually based on clinical examination and histopathology the muscles muscle biopsy, guided by PET-CT. This is not uncommonly presented extramacular signs like interstitial lung disease, dysphagia, few skin signs, loss weight, arteritis, cardiomyopathy, Pulmonary hypertension, respiratory failure, cancer.