Diagnostics in congenital muscular dystrophies

Congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessively inherited diseases. In the lost few years, in a number of CMDs the mutated genes and the gene products have been identified. It became clear that disturbance of glycosylation may be relevant in pathophysiology of CMD, particularly in severe forms with CNS involvement. Immunohistochemical staining of muscle is of decisive importance for further diagnostic planing. Based on the differentiation between laminin alpha2-positive and laminin alpha2-negative CMD as well as alpha-dystroglycan-positive and alpha-dystroglycan-negative CMD, further immunohistochemical and molecular genetic investigations will be performed. If the immunohistochemical staining reveals in a specific protein deficiency, such as decrease of collagen VI, a mutation analysis should be added. In the case of unspecific findings chromosomal regions may be excluded or more precisely defined by haplotyping. Magnetic resonance imaging (MRI), ophthalmological findings and neurophysiologlcal examinations may contribute important diagnostic hints.