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Neuroimaging in Non-dystrophic Myopathies

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Clinical Neuroradiology

Abstract

This chapter will describe non-dystrophic inherited myopathies and show the interest of clinical neuroradiology approaches in their diagnosis. There is a great clinical and genetic heterogeneity, and diseases are classified into different groups depending mainly on the age of onset (congenital myopathies), region of the body affected (distal myopathies), and the presence of particular structural or ultrastructural markers in the muscle biopsy (myofibrillar myopathies). Radiology, in particular muscle MRI techniques, has become a first-line complementary tool in clinical practice for this group of diseases. For diagnostic purposes, whole-body imaging techniques are preferred when involvement is axial or diffuse, as in most congenital myopathies, because of involvement of the tongue, masticator, neck, or trunk muscles. Patterns limited to lower limb muscles are better known in myofibrillar and distal myopathies. MRI protocols using T1-weighed and STIR sequences, which detect fibroadipose or inflammatory/edema changes, respectively, are widely used to identify abnormalities in muscle signal, volume, or texture. Recognizable profiles have been identified in many of these genetic myopathies. Graphical representations using heatmaps and automated algorithms allow comparing patterns and identifying key features in different myopathies, becoming an important tool to guide genetic diagnosis or to interpret next-generation sequencing results. Classic T1W and STIR protocols are progressively leaving the place to Dixon techniques, which offer not only images with similar qualitative information, useful for diagnosis (pattern recognition), but also provide quantitative data for follow-up (outcome measures). No curative treatments exist for these myopathies yet, but imaging offers a noninvasive non-radiating interesting tool expected to play an important role in future therapeutic trials.

This publication is endorsed by: European Society of Neuroradiology (www.esnr.org).

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Abbreviations

ACTA1:

α (alpha)-1 actin

AD:

Autosomal dominant

AL:

Adductor longus muscle

AM:

Adductor magnus muscle

AR:

Autosomal recessive

BAG3:

BCL2-associated athanogene 3 or Bag3 protein

BF:

Biceps femoris short head

BIN1:

Amphiphysin 2 encoding gene

BL:

Biceps femoris long head

BM:

Bethlem myopathy

CACNA1S gene (protein coding):

Calcium voltage-gated channel subunit alpha1 S

CCD:

Central core disease

CFTD:

Congenital fiber-type disproportion

CK:

Creatine kinase

CM:

Congenital myopathy

CMD:

Congenital muscular dystrophy

CNM:

Centronuclear myopathy

COL6:

Collagen 6

COX:

Cytochrome oxidase

CPEO:

Chronic progressive external ophthalmoplegia

CRYAB:

αB-crystallin

DES:

Desmin

DM:

Dystrophic myopathies, muscular dystrophies

DMD:

Duchenne muscular dystrophy

DMRV:

Distal myopathy with rimmed vacuoles

DNM2:

Dynamin 2

EDMD:

Emery-Dreifuss muscular dystrophy

EM:

Electron microscopy

EMG:

Electromyography

EPL:

Extensor pollicis longus muscle

FHL1:

Four-and-a-half LIM domain 1 protein

FLNC:

Filamin C

FSHD:

Facioscapulohumeral dystrophy

GAA:

Acid α (alpha)-glucosidase

GL:

Gastrocnemius lateral head

GM:

Gastrocnemius medial head

GMa:

Gluteus maximus muscle

GMe:

Gluteus medius muscle

GMm:

Gluteus minimus muscle

GNE:

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine

GR:

Gracilis muscle

GSDs:

Glycogen storage diseases

H&E:

Hematoxylin and eosin

HIBM:

Hereditary inclusion body myopathy

HMERF:

Hereditary myopathy with early respiratory failure

IDEAL:

Iterative Decomposition of water and fat with Echo Asymmetry and Least-squares

IL:

Iliacus muscle

KSS:

Kearns-Sayre syndrome

LD:

Latissimus dorsi muscle

LGMD:

Limb girdle muscular dystrophy

LPt:

Lateral pterygoid muscle

MELAS:

Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes

MERFF:

Myoclonic epilepsy with ragged red fibers

MFM:

Myofibrillar myopathy

MH:

Malignant hyperthermia

MmD:

Multi-minicore disease

MRI:

Magnetic resonance imaging

MRS:

Magnetic resonance spectroscopy

MTM1:

Myotubularin 1 gene

MYH7:

Myosin heavy chain 7, slow/β-cardiac MyHC gene

MYOT:

Myotilin

NB:

Nemaline bodies

NEB:

Nebulin

NM:

Nemaline myopathy

PAM:

Protein aggregate myopathies

RSMD1:

Rigid spine syndrome type 1

RSS:

Rigid spine syndrome

RYR1:

Ryanodine receptor type 1

SA:

Sartorius muscle

SCM:

Sternocleidomastoid muscle

SEPN1:

Selenoprotein 1 gene

SG:

Sarcoglycan

SM:

Semimembranosus muscle

SO:

Soleus

ST:

Semitendinosus muscle

STIR:

Short-tau inversion recovery

T1W:

T1-weighted

T2W:

T2-weighted

TA:

Tibialis anterior muscle

TFL:

Tensor fasciae latae muscle

TP:

Tibialis posterior muscle

TPM2:

Tropomyosin 2

TPM3:

Tropomyosin 3

TSE:

Turbo spin echo

TTN:

Titin

UCMD:

Ullrich type congenital muscular dystrophy

ULN:

Upper limit of normal

VI:

Vastus intermedius muscle

VL:

Vastus lateralis muscle

VM:

Vastus medialis muscle

WBMRI:

Whole-body MRI

WDM:

Welander distal myopathy

XLMTM:

X-linked myotubular myopathy

ZASP:

Z-band alternatively spliced PDZ-motif protein

3T:

3 Tesla

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Author information

Authors and Affiliations

  1. Unit of Neuromuscular Disorders, Departments of Pediatric Neurology, Intensive Care and Rehabilitation, Assistance Publique des Hôpitaux de Paris (APHP) Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France

    Susana Quijano-Roy

  2. Hôpitaux Universitaires Paris-Ile-de-France Ouest, Raymond Poincaré Hospital, Garches, France

    Robert Yves Carlier

  3. INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ), Versailles, France

    Susana Quijano-Roy & Robert Yves Carlier

  4. Service d’Imagerie Médicale, Hôpital Raymond Poincaré, Garches, France

    Robert Yves Carlier

Authors
  1. Susana Quijano-Roy
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  2. Robert Yves Carlier
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Corresponding author

Correspondence to Susana Quijano-Roy .

Editor information

Editors and Affiliations

  1. Department of Radiology and Nuclear Medicine, VU University Medical Centre (VUmc), Amsterdam, The Netherlands

    Frederik Barkhof

  2. The National Hospital for Neurology and Neurosurgery and University College Hospital (UCH), UCL Institute of Neurology, London, UK

    Hans Rolf Jäger

  3. Section of Neuroradiology and Musculoskeletal Radiology, Department of Biomedical Imaging and Image-guided Therapy, University Hospital Vienna, Vienna, Austria

    Majda M. Thurnher

  4. Department of Radiology and Nuclear Medicine Vall d’Hebron University Hospital Professor of Radiology and Neuroimmunology, Autonomous University of Barcelona Vall d’Hebron Research Institute (VHIR), Barcelona, Spain

    Àlex Rovira

Section Editor information

  1. Dept. of Neuroradiology, Hannover Medical School, Hannover, Germany

    Mike Wattjes

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Quijano-Roy, S., Carlier, R.Y. (2019). Neuroimaging in Non-dystrophic Myopathies. In: Barkhof, F., Jäger, H., Thurnher, M., Rovira, À. (eds) Clinical Neuroradiology. Springer, Cham. https://doi.org/10.1007/978-3-319-68536-6_74

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  • DOI: https://doi.org/10.1007/978-3-319-68536-6_74

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  • Publisher Name: Springer, Cham

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  • Online ISBN: 978-3-319-68536-6

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