Résumé :
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We have previously reported clinical, neuropathological and genetic findings in a large Finnish family with 7q36-associated autosomal dominant myopathy classified now as LGMD1D. After publishing we have discovered four more Finnish families with the same disorder based on clinical phenotype and linkage with an identical haplotype with the first family, adding the total number of examined patients to seventeen. In fact, two families were identified because of the characteristic pattern of muscle involvement by MRI as described in this presentation. Of those seventeen patients fourteen underwent lower limb muscle MRI, two of them repeatedly. Disease duration among patients varied from 2 to 33 years. Patients investigated by MRI imaging at different stages of the disease showed a very distinct pattern of muscle involvement. At early stages of the disease fatty degeneration in T1-weighted MRI sequences were observed in soleus, adductor magnus, semimembranosus and biceps femoris muscles followed by medial gastrognemius, adductor longus and later by vastii muscles of the quadriceps. Rectus femoris, lateral gastrognemius, sartorius, gracilis and the anteromedial group of lower leg muscles were spared until late senecence. This pattern of muscle involvement is so typical that it can be used as differential diagnostic examination for LGMD1D. The final diagnosis however requires molecular genetic confirmation.
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