Congenital muscular dystrophy - Muscular Dystrophy Queensland

Congenital muscular dystrophy (CMD)

Congenital muscular dystrophy (CMD) is a term for a group of muscular dystrophies present at birth or that appear early during infancy.

A baby born with congenital muscular dystrophy is weak at birth and may have breathing and swallowing problems. In recent times, better supportive care has extended lives.

Congenital muscular dystrophy

Symptoms

Children with CMD tend to show signs and symptoms of progressive muscle weakness, although they can have varying degrees of severity and rates of progression.

CMD first manifests in infants as a lack of muscle tone (hypotonia). Babies may appear to be  floppy. Infants may also show delays achieving motor milestones such as sitting, holding their head up and rolling over.

The 8 main types of CMD are

  • Bethlem myopathy
  • Fukuyama CMD (Dystroglycanopathy)
  • Laminin a2 related dystrophy
  • Merosin-deficient CMD
  • Muscle-eye-brain disease (Dystroglycanopathy)
  • SEPN1 related myopathy or rigid spine muscular dystrophy
  • Ullrich congenital muscular dystrophy
  • Walker-Warburg Syndrome (Dystroglycanopathy)

For the comprehensive list of 33 types visit:

https://www.mda.org/disease/congenital-muscular-dystrophy/types/cmd-chart

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Useful Resources

Visit The Loop Neuromuscular Resource Hub

The Loop Neuromuscular Resource Hub

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Muscular Dystrophy Association (USA)

The Muscular Dystrophy Association is based in the USA and is a wealth of information for neuromuscular conditions.

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