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Congenital Muscular Dystrophy
Charles Raybaud, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Brain malformations with congenital muscular dystrophy (CMD)
            • Synonyms

              • Dystroglycanopathies
              • CMD 1: Merosin (+) or merosin (-) CMD
              • CMD 2-4: "Cobblestone" lissencephaly (LIS2); CMD with severe CNS malformations
            • Definitions

              • CMDs = heterogeneous group of autosomal recessive myopathies presenting at birth with hypotonia
              • CMDs without major brain malformations are either merosin (+) or merosin (-)
                • CMD 1 merosin (+) normal laminin-α2 expression: Normal/very mild imaging findings (cerebellar hypoplasia, nonspecific white matter [WM] changes, focal PMG)
                • CMD 1 merosin (-) deficient laminin-α2 expression: Significant dys-/hypomyelination of WM
              • CMD 2-4 with major brain abnormalities (50%) variably associated ("cobblestone" brain, abnormal WM signal, ocular and cerebellar anomalies)
                • CMD 2: Fukuyama CMD (FCMD) least severe
                • CMD 3: Santavuori muscle-eye-brain (MEB) (Finnish type)
                • CMD 4: Walker-Warburg syndrome (WWS) most severe
              • Mixed patterns may occur: Merosin(-) CMD with brain malformations
              • All result from disturbed late migration of neurons

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        • Image Interpretation Pearls

                                          Selected References

                                          1. Quattrocchi CC et al: Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics. 14(1):77-83, 2013
                                          2. Radmanesh F et al: Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 92(3):468-74, 2013
                                          3. Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
                                          4. Myshrall TD et al: Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex. J Neuropathol Exp Neurol. 71(12):1047-63, 2012
                                          5. Bahi-Buisson N et al: GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain. 133(11):3194-209, 2010
                                          6. Muntoni F et al: Muscular dystrophies due to glycosylation defects. Neurotherapeutics. 5(4):627-32, 2008
                                          7. Sprecher E et al: A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet. 77(2):242-51, 2005
                                          8. Triki C et al: Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. Neuromuscul Disord. 13(1):4-12, 2003
                                          9. Zolkipli Z et al: Occipito-temporal polymicrogyria and subclinical muscular dystrophy. Neuropediatrics. 34(2):92-5, 2003
                                          10. Mercuri E et al: Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. Neuromuscul Disord. 11(3):297-9, 2001
                                          11. Philpot J et al: Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol. 4(3):109-14, 2000
                                          12. Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
                                          13. Santavuori P et al: Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. Eur J Paediatr Neurol. 2(1):41-7, 1998
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Brain malformations with congenital muscular dystrophy (CMD)
                                                    • Synonyms

                                                      • Dystroglycanopathies
                                                      • CMD 1: Merosin (+) or merosin (-) CMD
                                                      • CMD 2-4: "Cobblestone" lissencephaly (LIS2); CMD with severe CNS malformations
                                                    • Definitions

                                                      • CMDs = heterogeneous group of autosomal recessive myopathies presenting at birth with hypotonia
                                                      • CMDs without major brain malformations are either merosin (+) or merosin (-)
                                                        • CMD 1 merosin (+) normal laminin-α2 expression: Normal/very mild imaging findings (cerebellar hypoplasia, nonspecific white matter [WM] changes, focal PMG)
                                                        • CMD 1 merosin (-) deficient laminin-α2 expression: Significant dys-/hypomyelination of WM
                                                      • CMD 2-4 with major brain abnormalities (50%) variably associated ("cobblestone" brain, abnormal WM signal, ocular and cerebellar anomalies)
                                                        • CMD 2: Fukuyama CMD (FCMD) least severe
                                                        • CMD 3: Santavuori muscle-eye-brain (MEB) (Finnish type)
                                                        • CMD 4: Walker-Warburg syndrome (WWS) most severe
                                                      • Mixed patterns may occur: Merosin(-) CMD with brain malformations
                                                      • All result from disturbed late migration of neurons

                                                    IMAGING

                                                    • General Features

                                                      • CT Findings

                                                        • MR Findings

                                                          • Imaging Recommendations

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Staging, Grading, & Classification

                                                                  • Gross Pathologic & Surgical Features

                                                                    • Microscopic Features

                                                                      CLINICAL ISSUES

                                                                      • Presentation

                                                                        • Demographics

                                                                          • Natural History & Prognosis

                                                                            • Treatment

                                                                              DIAGNOSTIC CHECKLIST

                                                                              • Consider

                                                                                • Image Interpretation Pearls

                                                                                  Selected References

                                                                                  1. Quattrocchi CC et al: Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics. 14(1):77-83, 2013
                                                                                  2. Radmanesh F et al: Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 92(3):468-74, 2013
                                                                                  3. Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
                                                                                  4. Myshrall TD et al: Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex. J Neuropathol Exp Neurol. 71(12):1047-63, 2012
                                                                                  5. Bahi-Buisson N et al: GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain. 133(11):3194-209, 2010
                                                                                  6. Muntoni F et al: Muscular dystrophies due to glycosylation defects. Neurotherapeutics. 5(4):627-32, 2008
                                                                                  7. Sprecher E et al: A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet. 77(2):242-51, 2005
                                                                                  8. Triki C et al: Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. Neuromuscul Disord. 13(1):4-12, 2003
                                                                                  9. Zolkipli Z et al: Occipito-temporal polymicrogyria and subclinical muscular dystrophy. Neuropediatrics. 34(2):92-5, 2003
                                                                                  10. Mercuri E et al: Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. Neuromuscul Disord. 11(3):297-9, 2001
                                                                                  11. Philpot J et al: Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol. 4(3):109-14, 2000
                                                                                  12. Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
                                                                                  13. Santavuori P et al: Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. Eur J Paediatr Neurol. 2(1):41-7, 1998