GTR Home > Conditions/Phenotypes > cap myopathy

Summary

Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. Affected individuals may have feeding and swallowing difficulties in infancy. They typically have delayed development of motor skills such as sitting, crawling, standing, and walking. They may fall frequently, tire easily, and have difficulty running, climbing stairs, or jumping. In some cases, the muscles used for breathing are affected, and life-threatening breathing difficulties can occur. People with cap myopathy may have a high arch in the roof of the mouth (high-arched palate), severely drooping eyelids (ptosis), and a long face. Some affected individuals develop an ... abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. [from GHR] more

Clinical features

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  • Neck muscle weakness
  • Respiratory insufficiency
  • Facial diplegia
  • Long face
  • Distal lower limb muscle weakness
  • Narrow face
  • Generalized muscle weakness
  • Shoulder girdle muscle atrophy
  • Dysphagia
  • High palate
  • Pectus excavatum
  • Motor delay
  • Flexion contracture
  • Pes cavus
  • Scoliosis
  • EMG: myopathic abnormalities
  • Proximal muscle weakness
  • Nemaline bodies
  • Distal lower limb amyotrophy
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