Diagnosis

Merosin deficient congenital muscular dystrophy

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Congenital muscular dystrophy with deficiency of laminin (MDC1A, Merosin-deficient CMD) is also known as CMD with mutations Laminin A2 (LAMA2). Children with this type CMD are born with muscle weakness and hypotonia, there are early problems with breathing and swallowing and leads to progressive development of contractures. Few child learns to walk, although children at muscle biopsy showed only partial deficiency of laminin alpha2 (Merosin) are usually able to learn to walk and walk ability to keep up to early adulthood.

For some mutation that leads to a complete absence Merosin (at imunohistochomickém examination), walking ability is maintained until early adulthood, and vice versa for some partial deficiency Merosin children are not able to walk at all. Diagnosis is determined on the basis of skin or muscle biopsy, which shows complete or partial absence of laminin alpha2 (Merosin) 2 mutation / gene LAMA2 (one obtained from the mother and one from the father), and findings on brain MRI abnormalities in white matter.