Congenital Myopathies

Resource type: Frequently Asked Questions  —  Date posted: March 10th, 2012   Number of views: 1265

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Congenital Myopathies- what are the observable features?

The degree of muscle weakness is variable, and generally involves muscles of the trunk and limbs and those with proximal involvement eg shoulders and thighs.

Symptoms vary, however the following can be observed;

• recurrent chest infections
• drooping eye lids
• dribbling
• swallowing difficulties
• weakness in trunk / limbs

Children can be shorter than their peers, and over time develop curvature of the spine.

Hearing, vision and intelligence are normally unaffected.

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• Congenital Myopathy

Congenital Myopathy

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