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Congenital Muscular Dystrophy
Usha D. Nagaraj, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Congenital muscular dystrophy (CMD), dystroglycanopathies
            • Definitions

              • CMDs: Heterogeneous group of genetic disorders primarily characterized by onset of hypotonia within first 2 years of life
              • Dystroglycanopathies and merosin-deficient CMD are 2 major categories of CMDs described that have associated brain MR abnormalities
              • Dystroglycanopathies: Autosomal recessive, some of most commonly described phenotypes include
                • Walker-Warburg syndrome (WWS)
                • Fukuyama CMD (FCMD)
                • Muscle-eye-brain disease (MEB)
              • Merosin-deficient CMD: Autosomal recessive

            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. Kang PB et al: Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 84(13):1369-78, 2015
                                          2. Yamamoto T et al: The muscular dystrophies associated with central nervous system lesions: a brief review from a standpoint of the localization and function of causative genes. Curr Pediatr Rev. 10(4):282-91, 2014
                                          3. 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
                                          4. 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
                                          5. Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
                                          6. 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
                                          7. 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
                                          8. Muntoni F et al: Muscular dystrophies due to glycosylation defects. Neurotherapeutics. 5(4):627-32, 2008
                                          9. Martin PT: The dystroglycanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol. 12(3):152-8, 2005
                                          10. 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
                                          11. Allamand V et al: Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet. 10(2):91-4, 2002
                                          12. Philpot J et al: Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol. 4(3):109-14, 2000
                                          13. Caro PA et al: MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR Am J Neuroradiol. 20(2):324-6, 1999
                                          14. Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
                                          15. Sparks SE et al: Congenital Muscular Dystrophy Overview 1993
                                          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

                                                      • Congenital muscular dystrophy (CMD), dystroglycanopathies
                                                    • Definitions

                                                      • CMDs: Heterogeneous group of genetic disorders primarily characterized by onset of hypotonia within first 2 years of life
                                                      • Dystroglycanopathies and merosin-deficient CMD are 2 major categories of CMDs described that have associated brain MR abnormalities
                                                      • Dystroglycanopathies: Autosomal recessive, some of most commonly described phenotypes include
                                                        • Walker-Warburg syndrome (WWS)
                                                        • Fukuyama CMD (FCMD)
                                                        • Muscle-eye-brain disease (MEB)
                                                      • Merosin-deficient CMD: Autosomal recessive

                                                    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. Kang PB et al: Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 84(13):1369-78, 2015
                                                                                  2. Yamamoto T et al: The muscular dystrophies associated with central nervous system lesions: a brief review from a standpoint of the localization and function of causative genes. Curr Pediatr Rev. 10(4):282-91, 2014
                                                                                  3. 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
                                                                                  4. 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
                                                                                  5. Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
                                                                                  6. 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
                                                                                  7. 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
                                                                                  8. Muntoni F et al: Muscular dystrophies due to glycosylation defects. Neurotherapeutics. 5(4):627-32, 2008
                                                                                  9. Martin PT: The dystroglycanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol. 12(3):152-8, 2005
                                                                                  10. 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
                                                                                  11. Allamand V et al: Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet. 10(2):91-4, 2002
                                                                                  12. Philpot J et al: Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol. 4(3):109-14, 2000
                                                                                  13. Caro PA et al: MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR Am J Neuroradiol. 20(2):324-6, 1999
                                                                                  14. Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
                                                                                  15. Sparks SE et al: Congenital Muscular Dystrophy Overview 1993