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
Villar-Quiles RN et al: Muscular, ocular and brain involvement associated with a de novo 11q13.2q14.1 duplication: contribution to the differential diagnosis of muscle-eye-brain congenital muscular dystrophy. J Neuromuscul Dis. 7(1):69-76, 2020
Angelini C et al: Advances in imaging of brain abnormalities in neuromuscular disease. Ther Adv Neurol Disord. 12:1756286419845567, 2019
Srivastava R et al: Teaching neuroimages: the curious case of the brainstem kink. Neurology. 92(16):e1933-4, 2019
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
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
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
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
Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
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
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
Muntoni F et al: Muscular dystrophies due to glycosylation defects. Neurotherapeutics. 5(4):627-32, 2008
Martin PT: The dystroglcanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol. 12(3):152-8, 2005
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
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
Philpot J et al: Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol. 4(3):109-14, 2000
Caro PA et al: MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR Am J Neuroradiol. 20(2):324-6, 1999
Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
Sparks SE et al: Congenital Muscular Dystrophy Overview 1993
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
Villar-Quiles RN et al: Muscular, ocular and brain involvement associated with a de novo 11q13.2q14.1 duplication: contribution to the differential diagnosis of muscle-eye-brain congenital muscular dystrophy. J Neuromuscul Dis. 7(1):69-76, 2020
Angelini C et al: Advances in imaging of brain abnormalities in neuromuscular disease. Ther Adv Neurol Disord. 12:1756286419845567, 2019
Srivastava R et al: Teaching neuroimages: the curious case of the brainstem kink. Neurology. 92(16):e1933-4, 2019
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
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
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
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
Devisme L et al: Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain. 135(Pt 2):469-82, 2012
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
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
Muntoni F et al: Muscular dystrophies due to glycosylation defects. Neurotherapeutics. 5(4):627-32, 2008
Martin PT: The dystroglcanopathies: the new disorders of O-linked glycosylation. Semin Pediatr Neurol. 12(3):152-8, 2005
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
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
Philpot J et al: Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol. 4(3):109-14, 2000
Caro PA et al: MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR Am J Neuroradiol. 20(2):324-6, 1999
Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
Sparks SE et al: Congenital Muscular Dystrophy Overview 1993
STATdx includes over 200,000 searchable images, including x-ray, CT, MR, and ultrasound images. To access all images, please log in or subscribe.