The term myopathy is derived from the Greek and it means muscle disorder.
Myo = muscle
The congenital myopathies are a group of conditions which cause weakness and wasting of the muscles. In general symptoms are present at birth but may not be recognised until later on in childhood or even in adult life.
Congenital refers to the onset of the myopathy and means from birth.
Normal muscles consist of two types of muscle fibres (type 1 and type 2) and these fibres in young children are roughly the same size. In congenital fibre type disproportion; the type 1 fibres are smaller than type 2.
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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;
Children can be shorter than their peers, and over time develop curvature of the spine.
Hearing, vision and intelligence are normally unaffected.
Whizz-Kidz is a charity aiming to provide disabled children and young customised mobility equipment, training, advice and life skills.
This Charity provides equipment to children that is not available on the NHS. They also run Wheelchair training courses/ Mobility centres in Dagenham and Havering.
A very comprehensive website offering information and support.