Neuromuscular

Patterns of Neuromuscular Disease Involvement
  Thigh & Other Muscles 2

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

No Differential Pathology
  ACTA1 (Rod)
  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

Pelvis
  Common: Gluteus maximus & medius
  Uncommon: Obturator internus & externus
Thighs
  Common: Most anterior & Posterior compartment
  Uncommon: Sartorius, Gracilis, Adductor longus
      Semimembranosus
Legs
  Common: Gastrocnemius, Soleus, Peroneus
  Uncommon: Tibialis posterior
Other
Arms
  Common: Triceps; Biceps; Teres major; Periscapular
  Unommon: Deltoid
Symptomatic female carriers: Asymmetry



LGMD 2A
General: Similar to FKRP
Trunk & Pelvis
  Common: Paravertebral; Gluteus medius & minimus
  Uncommon: Abdominal; Psoas
Thighs
  Common: Adductors & Semimembranosus > Gracilis; Vasti
  Uncommon: Sartorius; Anterior; Vastus lateralis
Legs
  Common: Gastrocnemius, medial; Soleus
  Uncommon: Posterior tibial

LGMD 2B
General: Similar to LGMD 2L
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

LGMD 2C-2E
Pelvis
  Common: Glutei; Psoas
Thigh
  Common: Anterior & Posterior
  Uncommon: Sartorius; Gracilis
Legs
  Uncommon: All until late

LGMD 2L
General
  Similar to LGMD 2B
  STIR hyperintensity early
Pelvis   Uncommon: Glutei; Psoas; Illiacus
Thigh
  Common: Adductors; Semitendinosus; Vasti (Asymmetric)
  Uncommon: Sartorius; Gracilllis; Rectus femoris
Legs   Common: Soleus; Gastrocnemius, medial

LGMD 2I
General: Similar to CAPN3
Pelvis
  Common: Glutei
  Uncommon: Psoas; Iliacus
Thigh
  Common: Posterior; Vastus intermedius
  Uncommon: Sartorius; Gracilis
Legs
  Common: Gastrocnemius; Soleus


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

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
Leg  Gastrocnemius, medial


Myopathy with Satellite cell loss
Thigh   Common: Internal muscle regions
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

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

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

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

Facio-scapulo-humeral MD
General: Asymmetric
Arms
  Common: Trapezius; Serratus anterior; Latissimus dorsi;
    Pectoralis major; Rhomboid
  Uncommon: Supraspinatus; Infraspinatus; Subscapularis
Thighs  Common: Posterior; Vasti
Legs  Common: Tibialis anterior; Soleus; Medial gastrocnemius

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

Oculopharyngeal MD
Pelvis  Common: Gluteus minimus; Psoas
Thighs  Common: Posterior; Adductors
Legs  Common: Soleus; Peroneus

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

LGMD 1C
Leg: Gastrocnemius, medial

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

Rod myopathy (NEM3): ACTA1
Neck  Common: Sternocleidomastoid (SCM)
Trunk  Common: Abdominal; Thoracic
Thigh  Common: Sartorius > Adductors
Leg  Common: Anterior tibial; EHL; EDL

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

Acid maltase deficiency, Adult onset
Cranial nerves  Common: Tongue
Trunk  Common: Paravertebral; Abdominal
Pelvis  Common: Glutei
Thigh  Common: Adductors
Legs  Uncommon: All

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

Centronuclear myopathy (CNM1)
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
Legs  Common: Rectus femoris; Vasti

Myotonic Dystrophy, Type I
Arms  Common: Forearm flexors & extensors
Thigh  Common: Vastus intermedius
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
Leg  Common: Gastrocnemius, Medial

Myopathies, Acquired

Arms  Common: Flexor digitorum profundus
Thigh  Common: Anterior; Rectus femoris relatively spared
Leg Common: All muscles; Medial head of gastrocnemius

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

Connective Tissue: Abnormal signal

Neurogenic Disorders

SMA-LED
Thigh   Common: Sartorius

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

Other

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

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

Gracilis muscle involvement


Sartorius involvement


Semitendinosus involvement


Semimembranosus involvement


Glutei involvement


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References
1. Eur J Radiol 2016;85:922-935
2. Acta Myologica 2015;34:95-108, Neuropediatrics 2017 Jul 2

7/13/2017