Central core disease falls into the category ‘congenital myopathy’. The word 'myopathy' is derived from the Greek and means 'muscle disorder'. Congenital myopathies are a group of conditions where muscle weakness and wasting is apparent from birth. The name 'central core' was given in 1958. It refers to the central part of the muscle fibre that is affected by one or several abnormal areas, or cores, running along its length.

Symptoms are usually present and identifiable at birth. Common symptoms of central core myopathy are:

  • a delay in crawling, standing and walking
  • mild muscle weakness
  • muscle contractures (tightness)
  • complications with some bones and joints, such as congenital dislocation of the hips, spinal curvature and high arched feet

The child may also show non-progressive or slowly progressive muscle weakness that affects the face muscles, and the shoulder and thigh (proximal) muscles.

The condition is usually, although not always, inherited. The most common mode of inheritance is autosomal dominant.

In the remaining cases there does not appear to be a clear pattern of inheritance and these are described as 'sporadic' cases, which means they occur randomly with very little risk of other children in the family being affected.

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