Myopathies are neuromuscular diseases which cause muscle fibres not to function, so resulting in muscle weakness. This website provides information about centronuclear and myotubular myopathy, however, if you have stumbled across us wanting to read about another type of myopathy the information on this page may be of assistance.
Centronuclear and myotubular myopathy are congenital myopathies. The term congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. At birth a child with a congenital myopathy will most probably be ‘floppy’ (this is known as hypotonia), may have difficulty breathing and feeding and most probably will be slower than other babies in meeting developmental milestones such as turning over, sitting up, walking and maybe even talking.
Further information about congenital myopathies can be found on the Muscular Dystrophy Campaign website.
These are conditions that interfere with the way muscles provide energy. Further information abut metabollic myopathies can be found on the Muscular Dystrophy Campaign website.
Mitochondrial myopathies are a group of conditions that particularly affect muscle, but which may also affect every other part of the body, including the brain and the eye. Further information about Mitchchondrial disease can be found on the Muscular Dystrophy Campaign website.
Myofibrillar myopathies are highly variable but are characterised by a slowly progressive muscle weakness that can involve skeletal and smooth muscle. Skeletal muscle weakness can be present in the muscles close to the center of the body (proximal) as well as the distal muscles. A weakening of the heart muscle (cardiomyopathy) is common and may manifest as arrhythmia, conduction defects or congestive heart failure. Further information about Mitchchondrial disease can be found below.
- National Center for Biotechnology Information (NCBI): GeneReviews
- National Organisation for Rare Disorders (NORD)
Myositis (also known as inflammatory myopathies)
Inflammatory myopathies are autoimmune conditions, which mean the body’s immune system attacks the muscle. All of the conditions show muscle degeneration, which causes progressive weakness. Further information about Myositis can be found on the Muscular Dystrophy Campaign website.
Further information and details of support groups can be found below.