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A congenital myopathy is muscle disorder of the heart muscle and other muscles that a child is usually born with. There are a group of congenital myopathies that a person can have and will result in "floppy" muscles, along with shortness of breath, difficulty feeding and failure to meet all the expected developmental milestones, such as rolling over or sitting up on time.

The muscle can be damaged because of a direct problem with the muscle of the heart or because of the innervation or nerve supply to the muscles. Brain problems can lead to myopathies, too. The cardiologist and neurologist will work together to define what type of congenital myopathy the baby has. This can include a test for creatine kinase, which is a muscle enzyme. An EMG or electromyogram can be done to see what the electrical activity of the muscles is doing. Genetic testing can be done as well as a muscle biopsy of a small portion of the muscle in the arm, the heart or other body area.

There are seven distinct kinds of congenital myopathy, which vary according to symptoms, complications, outlook and treatment. These types of congenital myopathies include:

  • Nemaline myopathy-the most common kind. There are feeding and breathing problems and skeletal muscle is affected as well. It doesn't tend to worsen over the course of the person's lifetime.
  • Myotubular myopathy only affects boys. There is severe weakness and floppiness of the muscles so that the baby has reduced numbers of movements in utero. There are problems with breathing and swallowing difficulties and weakening of the bones. The babies often do not survive infancy.
  • Centronuclear myopathy begins in early childhood or in infancy. There are weaknesses of the arms and legs, droopy eyelids and problems with eye movement. The weakness gets worse over time.
  • Central core disease affects children to a varying degree. Infants are slightly floppy at birth and milestones are delayed. These do not worsen over time. These infants can have marked reactions to having general anaesthesia. Salbutamol seems to help these infants improve their level of weakness but is not curative to the disease.
  • Multi-minicore disease involves different subtypes. There is often scoliosis and severe muscle weakness of the limbs. Weakened eye movements are common in some patients.
  • Congenital fibre-type disproportion myopathy-this is a rare disorder that is accompanied by floppiness, limb and facial weakness as well as breathing difficulties.
  • Hyaline body myopathy is a disorder of muscle tissue that has variable symptoms of weakness and bony abnormalities. There are hyaline bodies in the cells of the muscle tissue.

There is only effective treatment in central core disease myopathy. None of the diseases have a cure and have a genetic basis for which the gene therapy does not exist. Orthopaedic surgery for scoliosis may be necessary and there is always physical, speech and occupational therapy.

The prognosis of congenital myopathies varies with the type of myopathy. If there are a great many breathing difficulties, the prognosis is much worse. The same is true for swallowing and feeding difficulties. Infants often die from pneumonia due to aspiration or to other complications of not being able to breathe. Other infants suffer from scoliosis, poor joint mobility and hip problems. The heart muscle can be involved in some cases.

Research is being done at the National Institute of Neurological Disorders and Stroke or the NINDS and other places throughout the world in order to get to the bottom of why these disorders happen and to look into possible treatments and cures for the diseases.

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The author of the substantive medical writing on this website is Dr. Christine Traxler MD whose biography can be read here