Muscle MRI in inherited neuromuscular disorders: Past, present, and future

Interest in muscle MRI has been largely stimulated in the last few years by the recognition of an increasing number of genetic defects in the field of inherited neuromuscular disorders. Muscle ultrasound (US) and computed tomography (CT) have been used to detect the presence of muscle involvement in patients affected by these disorders, but until recently the use of muscle MRI has been, with a few exceptions, limited to detecting inflammatory forms. The aim of this review is to illustrate how muscle MRI, in combination with clinical evaluation, can contribute to the selection of appropriate genetic tests and more generally in the differential diagnosis of genetically distinct forms of neuromuscular disorders. Possible future applications of muscle MRI are also discussed. J. Magn. Reson. Imaging 2007. © 2007 Wiley‐Liss, Inc.

[1]  J. Allsop,et al.  Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy , 2005, Neuromuscular Disorders.

[2]  H. Urbach,et al.  Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs , 2005, Journal of Neurology.

[3]  Francesco Muntoni,et al.  Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures , 2005, Neuromuscular Disorders.

[4]  Y. Jong,et al.  Spinal muscular atrophy: MR evaluation , 2005, Pediatric Radiology.

[5]  G. Bydder,et al.  Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations , 2004, Neuromuscular Disorders.

[6]  G. Bydder,et al.  Magnetic resonance imaging of muscle in nemaline myopathy , 2004, Neuromuscular Disorders.

[7]  P. Vermersch,et al.  Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. , 2004, The Journal of clinical endocrinology and metabolism.

[8]  E. Bertini,et al.  Pilot trial of phenylbutyrate in spinal muscular atrophy , 2004, Neuromuscular Disorders.

[9]  Y. Palmers,et al.  Computed tomography of the human skeletal muscular system , 1979, Neuroradiology.

[10]  H. Yoshioka,et al.  MR findings of spinal muscular atrophy Type II: sibling cases. , 2003, Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine.

[11]  J. Allsop,et al.  Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype , 2003, Neuromuscular Disorders.

[12]  V. Nigro.  Molecular bases of autosomal recessive limb-girdle muscular dystrophies. , 2003, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

[13]  G. Bydder,et al.  A short protocol for muscle MRI in children with muscular dystrophies. , 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[14]  E. Mercuri,et al.  Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1) , 2002, Neuromuscular Disorders.

[15]  P. Reiss,et al.  Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. , 2002, Neurology.

[16]  G. Bydder,et al.  Selective Muscle Involvement on Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy , 2002, Neuropediatrics.

[17]  Susan C. Brown,et al.  Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene , 2001, Neuromuscular Disorders.

[18]  K. Campbell,et al.  Contrast agent‐enhanced magnetic resonance imaging of skeletal muscle damage in animal models of muscular dystrophy , 2000, Magnetic resonance in medicine.

[19]  M. Leppert,et al.  Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study , 2000, Annals of neurology.

[20]  A. Blamire,et al.  Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy , 1997, Neuromuscular Disorders.

[21]  K. Bushby,et al.  Abnormalities in α-, β- and γ-sarcoglycan in patients with limb-girdle muscular dystrophy , 1996, Neuromuscular Disorders.

[22]  E. Sekul.  Muscle Disorders in Childhood, 2nd Ed. , 1996, Neurology.

[23]  K. Bushby,et al.  Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy. , 1996, Neuromuscular disorders : NMD.

[24]  R. Abresch,et al.  Profiles of neuromuscular diseases. Becker's muscular dystrophy. , 1995, American journal of physical medicine & rehabilitation.

[25]  T Ishihara,et al.  Muscle damage progression in Duchenne muscular dystrophy evaluated by a new quantitative computed tomography method. , 1993, Archives of physical medicine and rehabilitation.

[26]  B. Russman,et al.  Spinal Muscular Atrophy: New Thoughts on the Pathogenesis and Classification Schema , 1992, Journal of child neurology.

[27]  D. Pongratz,et al.  Imaging techniques in myotonic dystrophy. A comparative study of ultrasound, computed tomography and magnetic resonance imaging of skeletal muscles. , 1992, European journal of radiology.

[28]  W. Fisher,et al.  Applying psychometric criteria to functional assessment in medical rehabilitation: II. Defining interval measures. , 1992, Archives of physical medicine and rehabilitation.

[29]  N. Sano,et al.  [Magnetic resonance imaging of skeletal muscle in patients with Duchenne muscular dystrophy--serial axial and sagittal section studies]. , 1991, No to hattatsu = Brain and development.

[30]  A. Lamminen,et al.  Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement. , 1990, The British journal of radiology.

[31]  L. Farina,et al.  La tomografia computerizzata nello studio delle malattie neuromuscolari , 1990 .

[32]  M. Abramova.  [Hereditary neuromuscular diseases]. , 1989, Meditsinskaia sestra.

[33]  Y. Tateno,et al.  Protron spin‐lattice relaxation time of duchenne dystrophy skeletal muscle by magnetic resonance imaging , 1988, Muscle & nerve.

[34]  Walteil J. Murphy,et al.  MRI of normal and pathologic skeletal muscle. , 1986, AJR. American journal of roentgenology.

[35]  V. Dubowitz,et al.  Diagnostic advantage of needle muscle biopsy and ultrasound imaging in the detection of focal pathology in a girl with limb girdle dystrophy , 1985, Muscle & nerve.

[36]  S Leeman,et al.  Ultrasound imaging in the diagnosis of muscle disease. , 1982, The Journal of pediatrics.

[37]  Sidney Leeman,et al.  DETECTION OF PATHOLOGICAL CHANGE IN DYSTROPHIC MUSCLE WITH B-SCAN ULTRASOUND IMAGING , 1980, The Lancet.

[38]  W. Brzosko,et al.  Immunofluorescence study of brain plaques from two patients with multiple sclerosis , 1977, Neurology.

[39]  V. Dubowitz.  Muscle disorders in childhood. , 1977, Israel journal of medical sciences.

[40]  A. Ossipov,et al.  Duchenne muscular dystrophy , 2004 .