What is Congenital Myopathy?A congenital myopathy is any muscular disorder which is present at birth. Although this could include any muscular disease present at birth, there are three disorders which are specifically called congenital myopathies: central core disease, nemaline rod myopathy, and myotubular myopathy. Central core disease causes muscle weakness in infants and delays walking. Nemaline rod myopathy causes muscle weakness and can cause problems in feeding and walking. Myotubular myopathy also causes muscle weakness and can become worse as a child ages.
Who gets Congenital Myopathy?These three congenital myopathies are caused by genetic disorders, meaning that one or both parents have to carry the gene which causes the disorder.
How is Congenital Myopathy diagnosed?After taking the patient and family history, a physician may perform a blood test, a muscle biopsy, and an EMG.
How is Congenital Myopathy treated?Treatment is designed to aid the symptoms of congenital myopathy since there is no cure for the myopathy itself.
TREAT-NMD has published standards of care for Congenital Myopathy (CM). The CM family guide is also available.
Hershey Medical Center
National Institute of Neurological Disorders and Stroke
National Organization for Rare Disorders
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