Congenital Myopathies

  • Antti Lamminen
  • Helena Pihko


Congenital myopathies constitute a rare group of disorders characterized by hypotonia and generalized muscle weakness from birth and structural alterations of muscle fibers. The clinical presentation of congenital myopathies is very similar regardless of the pathological changes in the muscle. The severity of muscle weakness varies, but most often it is mild with a stable or slowly progressive clinical course. Congenital dislocation of hip can be present, and scoliosis, chest and foot deformities can develop. Facial weakness with a high arched palate is common. In severe cases, weakness of respiratory muscles can cause death in infancy or childhood. Exceptional cases have an adult onset and a progressive course. Cardiomyopathy has been described in isolated cases. Serum creatine kinase is normal or slightly elevated, and, like electromyography (EMG), is of very little help in establishing the diagnosis of congenital myopathies. Nerve conduction velocity is normal and EMG may show myopathic changes. Muscle biopsy with histochemical staining of cryostat sections and electronmicroscopic study is essential for the diagnosis of a congenital myopathy. Dystrophic or neurogenic changes are absent and accumulation of fat or increased amount of connective tissues is less typical than in the muscular dystrophies. The classification of congenital myopathies is based on structural changes—presence of cores, rods or myotubes—in the muscle. The majority of the pathological changes are not specific. More than one type of pathological change can be present in one biopsy and similar changes can be seen to a small extent in other conditions.1-3


Muscular Dystrophy Spinal Muscular Atrophy Malignant Hyperthermia Extensor Digitorum Longus Muscle Chemical Shift Imaging 
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© Springer-Verlag New York, Inc. 1996

Authors and Affiliations

  • Antti Lamminen
  • Helena Pihko

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