Neuromuscular

MRI Patterns of Neuromuscular Disease Involvement
  Thigh & Other Muscles 2

MRI Patterns: Hereditary
αB-Crystallin
ACADVL
Acid Maltase
ANO5
Becker
Calpain-3
CASQ1
Caveolin-3
CMT 1A
Collagen VI
Collagen XII
Desmin
DNM2
DNAJB6
DOMS
DPM3
Duchenne
Dysferlin
Emerin
FAM111B
FHL1
    Filamin
FKRP
FSH
GMPPB
GNE
GYG1
HNRNPDL
Lamin A/C
Laminin α2
MPD2
MYH2
MYH7
Myotilin
Myotonic Dystrophy
  1: DMPK
  2: ZNF9
Normal
OPMD
Plectin
PNPLA2 (Lipid)
POGLUT1
    POLG
Rod
  ACTA1
  ADSSL1
  LMOD3
RYR1: Central Core
Sarcoglycans
SECISBP2
SEPN1
Spinal Muscular Atrophy
  BSMA: AR
  Crural amyotrophy
  SMA 5q: SMN1
  SMA-LED: DYNC1H1
  SMALED2: BICD2
Titin: HMERF
TMEM8C: CFZ
TNPO3
VCP: IBMPFD
ZASP
MRI Patterns: Acquired   MRI Patterns: General
Age
HMGCR
IMPP
IBM (IM-VAMP)
Nephrogenic fibrosis
RIIM
SRP
  Muscle MRI
    Sequences & Patterns
    Asymmetric
  Myopathy
    Hereditary
    Acquired
    Connective tissue
  Neurogenic

No Differential Pathology
  Nebulin (Rod)
  TPM3
 
Legend
  White = Muscle: Involved Early
  Gray = Muscle: Moderately Involved
  A Longus: Adductor Longus
  RF: Rectus Femoris
  SM: Semimembranosus
  ST: Semitendinosus
  VI: Vastus Intermedius
  VL: Vastus Lateralis
  VM: Vastus Medialis

Myopathies, Hereditary


Dystrophinopathies: DMD & BMD


Duchenne MD
  Early involvement of Adductors

Dystrophinopathies: Muscle Involvement

Arms 4
  Common
    Proximal: Periscapular (Involved early, with normal function)
    Triceps; Biceps; Teres major
    Distal arm: Supinator; Pronator
  Uncommon: Deltoid; Pectoralis; Hand & finger extensors
Trunk  Paraspinal > Abdominal
Pelvis
  Common: Gluteus maximus & medius
  Uncommon: Obturator internus & externus
Thighs
  Common: Most anterior & Posterior compartment
  Early: Adductor magnus
  Uncommon: Sartorius, Gracilis, Adductor longus
      Semimembranosus
Legs
  Common: Gastrocnemius, Soleus, Peroneus
  Uncommon: Tibialis posterior
Distinguishing feature
  Soleus & Obturator externus:
    Less involved than in Dysferlinopathy

Female carriers, Symptomatic: Asymmetry



LGMD 2A 5
General: Similar to FKRP
  Distinguishing feature
    Obturator externus & internus less involved than FKRP
Upper body
  Common: Latissimus dorsi, Serratus anterior, Subscapularis
  Uncommon: Arm abductors
Trunk & Pelvis
  Common: Paraspinous (Extensor); Gluteus medius & minimus
  Uncommon: Abdominal; Psoas
Thighs
  Common: Adductors & Semimembranosus > Gracilis; Vasti
  Uncommon: Sartorius; Gracilis; Anterior; Vastus lateralis
Legs
  Common: Gastrocnemius, medial; Soleus
  Uncommon: Posterior tibial
Severe disease: Anterior thigh; Central muscle spared
    Null mutations
Asymmetry: Some patients

LGMD 2I
General: Similar to CAPN3
  Distinguishing feature
    Obturator externus & internus more involved than CAPN3
Pelvis
  Common: Glutei
  Uncommon: Psoas; Iliacus
Thigh
  Common: Posterior; Vastus intermedius
  Uncommon: Sartorius; Gracilis
Legs
  Common: Gastrocnemius > Soleus

LGMD 2B
General: Similar to LGMD 2L (ANO5)
  Distinguishing features
    Adductor magnus less involved than ANO5
    Anterior tibial more involved than ANO5
    Soleus & Obturator externus:
      More involved than Dystrophinopathy
Arms
  Forearm flexors
Pelvis
  Common: Gluteus minimus
  Uncommon: Psoas
Thighs
  General: STIR hyperintense early
  Common: Adductors; Vasti; Semimembranosus
  Uncommon: Biceps, short head; Sartorius; Gracilis
Legs
  Common: STIR hyperintense; Gastrocnemius, medial
  Uncommon: Posterior tibial


From: F Fatehi


LGMD 2C-2F: Similar patterns 3
Distinguishing feature from other MDs
  No fat replacement in distal limb muscles
Pelvis
  Common: Glutei
Thigh
  Common: Adductor magnus (Early)
    Quadriceps: Proximal > Distal
  Uncommon: Sartorius & Gracilis; Vastus lateralis, distal
    Tensor fasciae latae
  Hypertrophy: Sartorius & Gracilis
Legs: Spared until late
  Uncommon: Tibialis posterior; Flexor digitorum longus

LGMD 2L (LGMD R12)
General
  Asymmetric
  Similar to LGMD 2B (Dysferlin)
  Distinguishing features
    Adductor magnus more involved than Dysferlin
    Anterior tibial less involved than Dysferlin
  STIR hyperintensity early: Medial gastrocnemius most common
Pelvis   Uncommon: Glutei; Psoas; Illiacus
Thigh
  Common: Adductors; Semitendinosus; Vasti (Asymmetric)
  Uncommon: Sartorius; Gracilllis; Rectus femoris
Legs   Common: Soleus; Gastrocnemius, medial
External link

LGMD 2Q (LGMD R17)
Trunk
  Paravertebral, lumbar
Thigh
  Adductors, Semimembranosus, Semitendinosus, Biceps femoris
Legs
  Anterior
  Soleus

From: Sergey Bardakov

Young Adult

Child, 4 years

From: Sergey Bardakov

LGMD 1F
Scapular girdle: Teres major >
    Pectoral, Infraspinatus, Serratus anterior, Deltoid
Lumbar: Paraspinal > Abdominal oblique, Rectus abdominus
Thigh: Sartorius > Vasti, Biceps, Semitendinosus
Lower leg: Peroneal & Gastrocnemius > Soleus, Anterior Tibial

Carey-Fineman-Ziter
Thigh Adductor magnus; Sartorius
Trunk Paraspinous; Gluteus maximus

Multisystem Selenoprotein Deficiency
Trunk  Common: Paraspinous
Pelvis  Uncommon: Psoas
Thigh  Common: Adductors; Sartorius

SEPN1 myopathy: Common involvement
Head  Temporal; Masseter; Lateral pterygoid
Neck  SCM; Neck extensors; Levator scapulae
Trunk  Paraspinous; Pectoralis major; Abdominal; Glutei
Pelvis  Psoas; Iliac
Thigh  Semimembranosus; Sartorius > Adductor magnus
Leg  Gastrocnemius, medial


Myopathy with Satellite cell loss
Thigh Common: Internal muscle areas (Also MYH7 Child, Axial)
Leg Common: Gastrocnemius, Lateral; Soleus; Posterior Tibial

Myopathy
Trunk: Gluteus maximus; Adductor magnus; Obturator
Thigh: Hamstrings; Adductor; Rectus femoris
Leg: Anterior tibial; Medial gastrocnemius

CMD: Laminin-α2 Deficiency
General Some with peripheral predominant pathology
Thigh Common: Adductor magnus; Biceps
Trunk Common: Gluteus
Arms Mild: Deltoid; Biceps

Titin
Myopathy with Respiratory Failure (HMERF)

  Pelvis  Common: Illiacus; Psoas; Obturator
  Thigh  Common: Semitendinosus > Sartorius & Gracillis
Finnish distal myopathy
  Thigh  Common: Normal
  Leg  Common: Tibialis anterior

LGMD 1B; EDMD2
Trunk
  Common: Paraspinal (Multifidus & Longissimus)
  Uncommon: Abdominal
Pelvis
  Common: Gluteus minimus & medius
  Uncommon: Psoas
Thigh
  Common: Posterior; Adductor major
  Uncommon: Sartorius; Gracillis
  Hypertrophic: Rectus femoris
Leg   Common & Early: Gastrocnemius, medial
  Often: Gastrocnemius, lateral; Soleus
  Uncommon: Anterolateral, less than EDMD1

EDMD1
Trunk Paravertebral, Glutei
Thigh Quadriceps, Semitendinosus, Semimembranosus,
    Biceps femoris, Adductor magnus
Leg Soleus, Gastrocnemius, Peronei

Oculopharyngeal MD
Bulbar: Tongue (Presymptomatic)
Trunk: Serratus anterior; Cervical paraspinous
Pelvis  Common: Gluteus minimus & medius; Psoas
Thighs  Common: Posterior; Adductor magnus
Legs  Common: Soleus > Gastrocnemius; Peroneus

From: F Fatehi
Neutral Lipid Storage (PNPLA2)
General involvement Legs & Trunk > Thigh; Asymmetric
Arms Infraspinatus; Biceps
  Hypertrophy: Sternocleidomastoid; Triceps brachii; Pectoralis minor & major
Trunk Gluteus minimus
Thigh Posterior; Semimembranosus & Biceps (Long head) early
  Hypertrophy: Sartorius; Gracilis
Leg Soleus; Gastrocnemius, medial; Posterior tibial
Thigh

From: F Fatehi   Ser185Pro
Arm

From: F Fatehi

VLCAD Deficiency
Asymmetric
Thigh
  Common: Adductor magnus; Vasti
  Spared: Semitendinous, Sartorius, Gracilis, Rectus femoris
Leg  Common: Gastrocnemius (Medial)
Thigh

Leg

From: F Fatehi

LGMD 1A; MFM5; MYH7
Trunk   Common: Rhomboid; Erector spinae
Pelvis   Common: Gluteus medius & minimus
Thigh
  Common: Adductors; Semimembranosus; Biceps
  Uncommon: Rectus femoris; Semitendinosus; Sartorius; Gracilis
Legs
  Common: Soleus; Gastrocnemius, medial; Anterior tibial
  Uncommon: Peronei, Posterior tibial


MYH7 variant: Myopathy, Childhood, Axial
Axial: Tongue; Neck & Thoracic extensors; Sternomastoid
Arm: Posterior relatively spared
Hip: Gluteus minimus; Tensor fascia lateae
Thigh   Common: Internal muscle regions (Also POGLUT1)
    Adductors; Sartorius; Gracilis; Biceps
Leg: Soleus; Tibialis anterior; Extensor digitorum longus

LGMD 1D
Thigh   Common: Adductor major, Semimembranosus, Biceps
Leg   Common: Soleus

LGMD 1E; MFM2
Pelvis   Common Gluteus maximus; Psoas
Thigh
  Common: Semitendinosus, Gracilis, Sartorius
  Uncommon: Anterior
Legs   Common: Peronei; Posterior atrophy

FHL1: Reducing Body Myopathy
Trunk  Common: Paraspinous
Pelvis  Hypertrophy: Glutei
Thigh  Common: Posteromedial
    Semimembranosus, Biceps femoris, Adductor; Gracilis
Leg  Common: Soleus; Asymmetry

ZASP Distal myopathy
Thigh
  Common: Semimembranosus; Biceps; Adductors
  Uncommon: Semitendinosus; Gracilis; Sartorius
Leg  Common: Soleus; Gastrocnemius, medial

From: Leo Wang

Facioscapulohumeral (FSH) MD
General: Asymmetric
Arms
  Common: Trapezius; Serratus anterior; Teres major
    Latissimus dorsi; Pectoralis major; Rhomboid
  Uncommon: Supraspinatus; Infraspinatus; Subscapularis
Trunk   Abdominal + Paraspinal
Thighs  Common: Posterior; Vasti
Legs  Common: Tibialis anterior; Soleus; Medial gastrocnemius

General
  Common: Inhomogeous, patchy distribution
Pelvis, Thighs & Legs: Common involvement


LGMD 2T
Trunk
  Common: Paraspinous
Thigh
  Common: Posterior muscles
Leg
  Common: Gastrocnemius, Medial

Thigh
  Common: Vasti, Sartorius, Adductor magnus
  Spared: Rectus femoris; Adductor longus
Legs: Later in course
  Anterior tibial; Extensor hallucis; Soleus

From: A Berardo

VMCQA
Pelvis  Common: Gluteus maximus
Thighs  Common: Semitendinosus; Vastus lateral (Dist); Anterior
Legs  Common: Gastrocnemius
Arms: Mild involvement
Asymmetry

Myopathy + Ophthalmoplegia
Thighs Common: Gracilis; Vastus lateralis; Semitendinosus

POIKTMP
Thighs Common: Vastus lateralis (Early); Anterior (Late)
Legs  Common: Posterior
External link

LGMD 1C
Leg: Gastrocnemius, medial

MPD2: Matrin-3
General: Asymmetric
Trunk  Common: Paraspinal
Thigh  Common: Semimembranosus; Sartorius
Leg  Common: Soleus; Gastrocnemius, medial

Rod myopathy, Dominant (de novo): ACTA1 (Thr204Ile) 6
Bulbar  Tongue
Neck  Common: Sternocleidomastoid (SCM)
Trunk  Common: Abdominal; Thoracic
Thigh  Common: Sartorius > Adductors
Leg  Common: Anterior tibial; EHL; EDL

Rod myopathy, Dominant: ACTA1 (Gly50Ser)
Neck  Common: Sternocleidomastoid (SCM)
Trunk  Common: Rectus abdominis; Gluteus minimus
Thigh  Common: Vastus intermedius & lateralis
Leg  Common: Gastrocnemius, Medial & Lateral

Rod, Distal myopathy: ADSSL1
Head: Tongue & Masseter
Trunk: Neck & Upper thoracic
Lower extremity
  Posterior > Anterior
  Thigh
    Common: Vastus lateral (Periphery), Adductor, Biceps femoris
    Uncommon: Rectus femoris; Sartorius; Semitendinous
  Legs: Soleus & Gastrocnemius (Periphery)

Rod myopathy: NEM10
Thigh   Common: Sartorius


GNE myopathy
General  Common: T2 hyperintensity
Pelvis  Common: Gluteus minimus
Thigh
  Common: Medial; Posterior
  Uncommon: Vastus lateralis
Legs
  Common: Anterior tibial; Toe extensors;
    Soleus; Gastrocnemius, medial


From: F Fatehi

Acid maltase deficiency, Adult onset
Distinguishing feature from most MDs
  No fat replacement in distal limb muscles
Cranial nerves  Common: Tongue
Upper extremity: Subscapular
Trunk  Common: Paravertebral; Abdominal
Pelvis  Common: Glutei
Thigh  Common: Adductors
Legs  Uncommon: Gastrocnemius; All

X-linked Myopathy with Excessive Autophagy (XMEA)
Upper extremity: Subscapular; Biceps
Pelvis  Common: Glutei
Thigh  Common: Vasti; Adductor magnus
    Hypertrophy: Rectus; Semimembranosus
Legs  Common: Soleus

Head   Common: Masticatory
Arms   Common: Biceps brachialis
Thigh   Anterior > Posterior
  Common: Vasti, Sartorius, Adductor magnus
  Uncommon: Rectus, Gracilis, Adductor longus, Biceps femoris
Leg   Varied involvement of all compartments
  Common: Soleus > Gastrocnemius; Peronei
  Uncommon: Tibialis anterior
Recessive disease   More diffuse involvement

Centronuclear myopathy (CNM1)
Trunk   Paraspinous
Thigh
  Common: Posterior; Adductor; Biceps; Semimembranosus
  Uncommon: Sartorius, Gracilis; Rectus femoris
Leg   Common: Lateral soleus, Gastrocnemius

Ullrich & Bethlem myopathies
General: Signal at muscle periphery; Tigroid pattern
  Common: Vasti, medial & lateral; Gastrocnemius, medial
Trunk  Common: Paravertebral
Arms  Common: Triceps; Subscapularis
Thigh  Common: Rectus femoris; Vasti
Legs  Diffuse; Rim between Soleus & Gastrocnemius

Myotonic Dystrophy, Type I
Arms  Common: Forearm flexors & extensors; Triceps
Trunk   Abdominal + Paraspinal
Thigh  Common: Vastus intermedius; Anterior > Posterior
Leg
  Common: Peronei
  Uncommon: Posterior tibial

Myotonic Dystrophy, Type 2
Younger patients: MRI often normal
Trunk
  Common: Erector spinae; Rectus abdominus; External oblique
Thigh  Common: Vasti; Hamstring, Internal; Anterior > Posterior
Leg  Common: Gastrocnemius, Medial

Myopathies, Acquired 7

From: Chris Weihl

General: Asymmetry
Arms  Common: Flexor digitorum profundus
Thigh  Common: Anterior; Sartorius, distal
    Relatively spared: Rectus femoris
    More involved: Distal parts of muscles
Leg Common: All muscles;
  Gastrocnemius, Medial

Thigh
  Fat infiltration (T1): Adductor magnus; Hamstrings
  Edema (Short tau inversion recovery):
    Vastus lateralis; Rectus femoris

Arms Biceps > Triceps
Trunk Paraspinous, Glutei
Thigh  Common: Adductors, Hamstrings; Quadriceps, varied
Leg Medial gastrocnemius variably involved STIR signal:


Connective Tissue: Abnormal signal

Immune Myopathy with Perimysial Pathology
  Connective tissue involvement
    Subcutaneous tissue
    Between fascicles
  Muscle: Patchy involvement

Neurogenic Disorders
SMA 5q, Type III - IV
SMN1 0 copies; SMN2 4 copies

T1 images     From: F Fatehi

SMA-LED
Thigh   Common: Sartorius

SMALED2
Thigh   Common: Sartorius; Vastus lateralis
Leg   Common: Lateral gastrocnemius

Other

Deep Vein Thrombosis


From: F Fatehi

Unknown
  Lumbar Stenosis & Radiculopathy: Pain
  Serum: Tif1γ & Mi-2β antibodies

Patchy T2 signal: Vastus lateralis > medialis; Fascia

With help from: A El-Dokla
Thigh cross-section drawing from: Cunningham's manual of practical anatomy 1914, p194, Fig 73

Muscle MRI: Features 1


MRI Sequences & Appearances
T1 STIR
Water Dark Light
Fat Light Dark

Acute Injury Chronic: Fat inflitration
T2: Low signal intensity
Diffusion imaging: Signal ADC = Apparent diffusion coefficient
DWI = Diffusion weighted imaging

Perfusion imaging: Signal
Pulse sequences
General patterns

Gracilis muscle involvement


Sartorius involvement


Vastus lateralis involvement: Selective


Semitendinosus involvement


Semimembranosus involvement


Glutei involvement


Return to Neuromuscular Home Page
Return to Disease patterns

References
1. Eur J Radiol 2016;85:922-935
2. Acta Myologica 2015;34:95-108, Neuropediatrics 2017 Jul 2, Eur Radiol 2018 May 25, Neurology 2020; Feb 6, Eur Radiol 2021 Apr 21
3. JNNP 2017; Online September
4. PLoS One 2018;13:e0199222
5. J Neurol 2020;267:45-56
6. Muscle Nerve 2014;50:1011-6
7. Acta Radiol 2021 Feb 7

9/23/2021