Central core disease of muscle with focal wasting.

Central core disease of muscle with focal wasting.

Central core disease

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pr...

A patient with severe central core disease.

Editor—We report a case of a 19-yr-old primigravida who was referred to our tertiary obstetric unit at 37 weeks gestation. She was known to have skeletal muscle weakness since birth and had a history of delayed motor milestones as a child. Myopathy of an unknown aetiology had been suspected since early childhood. Additionally, after sudden cardiac deaths of the patient’s father and brother, con...

Muscle wasting disease: a proposal for a new disease classification

Muscle wasting and cachexia are the ultimate consequence of aging and a variety of acute and chronic illnesses. Significant efforts are made by many stakeholders to develop effective therapies. An important aspect of successful therapeutic development research is a common nomenclature for effective communication between researchers and clinicians, to the public, and also with regulatory bodies....

Myotubular/centronuclear myopathy and central core disease.

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...