Quadriceps

Front, Search, Index, Links, Pathology, Molecules, Syndromes,
Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info

FOCAL MUSCLE INVOLVEMENT

Bulbar
Focal enlargement
Focal fibrosing myopathy
Focal myositis
Hamstring
Quadriceps
Scapular winging

MRI: Fatty atrophy of Quadriceps

Quadriceps

Quadriceps atrophy
Inclusion body myositis

Quadriceps: Selective Weakness

Hereditary myopathies
- Becker
- LGMD: 1B; 2B; 2H; 11p13
- Emery-Dreifuss: Lamin A/C
- HIBM3
Inflammatory Myopathies
Myopathy with ringed fibers
Nerve disorders
- Femoral neuropathy
- Diabetic amyotrophy
- L3-L4 radiculopathy
- Lumbo-Sacral plexopathies: Especially neoplastic

Quadriceps: Atrophy with normal strength

Tear (partial) of rectus femoris
- Causes
  - Trauma: Usually 2° with muscle stretch
  - Spontaneous: Middle or late age
  - Systemic disease
    - Endocrine: Hyperparathyroidism; Diabetes; Anabolic steroids
    - Renal failure
    - Gout; Rheumatoid arthritis
    - Infection: Tuberculosis; Syphilis
- Diagnosis: MRI scan
- Treatment: ? Surgical repair within 1^st months

Quadriceps: Strength selectively spared

Nonaka distal myopathy/Hereditary inclusion body myopathy 2 (HIBM2)
McLeod syndrome
Becker Muscular Dystrophy: Occasional patients
LGMD 2A; 2C
Congenital fiber type size disproportion: TPM3 mutations

Hamstring weakness

Myopathies: Hereditary
- HIBM 2 (Nonaka)
- Bethlem myopathy
- Multiple epiphyseal dysplasia with mild myopathy (EDM3)
- Congenital muscular mystrophy with muscle hypertrophy (MDC1C)
- LGD: 2A; 2B (Miyoshi myopathy): 2C; 2I; 2L (Asymmetric)
- Becker MD: Occasional patients
Nerve
- Radiculopathy: Sacral
- Lumbosacral plexopathy
- Sciatic nerve lesion
Orthopedic
- Avulsion
- Surgical: After muscle harvesting for ACL repair
- Athletic injury: Strain of long head of biceps femoris

Scapular winging

Scapular winging

Dystrophy
- FSH
- LGMD2A (Calpain 3)
- LGMD 2E (β-Sarcoglycan)
- LGMD 2I (FKRP)
- Emery-Dreifuss
- Myopathy + Paget's disease of bone
  - with Dementia: 9p13
  - Type 2
Scapuloperoneal syndromes
- Centronuclear myopathy: Adult-onset; Dominant
- Davidenkow's syndrome
- FSH phenotype with ragged red fibers & cardiomyopathy
- Glycogen storage
  - Acid maltase deficiency with scapuloperoneal weakness
  - Phosphorylase deficiency (McArdle)
- Mitochondrial
- Reducing body myopathy: Adult onset
- Scapuloperoneal muscular dystrophy (SPMD): 1; 2
- SPMD with Retardation + Cardiomyopathy
- Scapuloperoneal neuronopathy
Other neuromuscular disorders
- Holt-Oram
- King-Denborough
- OAT deficiency
- Syndromes with severe muscle wasting
  - Congenital fiber type size disproportion: TPM3 mutations
  - Other congenital myopathies
- AR-CMT2A: Later in disease course
Focal muscle weakness
- General: Winging caused by weakness of Scapulo-thoracic muscles
- Trapezius: Lateral winging
  - Etiologies
    - Nerve lesion: Spinal accessory
      - Cervical segmental origin: C1-C4
      - Causes: Surgical, Procedures in posterior triangle of neck (Lymph node biopsy)
      - Proximal spinal accessory lesion also produces: Sternocleidomatoid weakness
    - Absent muscle
  - Examination
    - Winging most evoked by: Lateral abduction of arms
    - Lateral displacement of scapula
  - Associated with drooping shoulder
    - Shoulder shrug: Asymmetric
    - Shoulder droop may be associated with: Neurovascular thoracic outlet syndrome
- Serratus anterior: Medial winging
- Rhomboids: Lateral winging
  - Dorsal scapular nerve
  - Anatomy
    - Nerve formed from C5 proximal to brachial plexus
    - Rare C4 to T1 contributions
    - May share common trunk with long thoracic nerve
  - Examination
    - Weakness: Rhomboids major & minor; Levator scapulae
    - Winging most evoked by: Lateral abduction of arms
    - Medial rotation of lower scapular border
  - Causes
    - Thoracolumbar orthosis bracing for idiopathic scoliosis
    - Entrapment: Hypertrophy of middle scalene muscle
    - Sports injury: Volleyball
Orthopedic disorders
- Rotator cuff
- Fracture
- Scapular osteochondroma
- R/O Sprengel deformity

FOCAL MYOSITIS²

MRI: T2 weighted image (from M. Al-Lozi)

Focal myositis
Brachialis (Arrow)

Epidemiology
- Onset Age
  - Range: Childhood to 70's
  - Common: Adulthood; Most in 30's to 50's
- Sex: Male = Female
- Identical twins: 1 set both with disease
- Local pain
Clinical features
- Muscle mass
  - Solitary (Asymmetric)
  - Painful
  - Enlarging (Days to Months)
- Muscles involved
  - Leg: Quadriceps; Gastrocnemius
  - Also: Abdomen; Arm; Forearm; Neck¹; Tongue; Perioral
- No generalized weakness
- No joint involvement
- Natural history
  - Self limited course: Months; < 4 years
  - Eventual spontaneous regression
  - Recurrence⁴: Rare; May occur in other muscles
  - Reported prior events: Campylobacter; Borrellia burgdorferi; BCG vaccination
- Differential diagnosis: Nodular fasciitis; Sarcoma; Proliferative myositis
- Treatment
  - Control pain & inflammation: Analgesics & NSAIDS
  - ? Corticosteroids: Short course of weeks to few months
  - Physical therapy to reduce contracture
  - ? Surgery
Laboratory
- Serum CK: Normal
- EMG: Irritative myopathy in affected muscle
- CT: Poorly defined enlargement; Fatty infiltration; No discrete mass
- MRI: Muscle enlargement; Edema (High T2 signal; Low T1 signal)
- Muscle pathology
  - Perimysial connective tissue thickening
  - Myopathic changes: Degeneration; Regeneration; Varied fiber size; internal nuclei
  - Inflammation: T-cell predominant
- HLA types: A2, B62, Cw3 & DQ3 common to small series of Japanese patients

RECURRENT FEVER WITH LOCALIZED MYOSITIS or FASCIITIS

l Tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A)

; Chromosome 12p13.2; Dominant

Alternate name: TNF receptor-associated periodic syndrome (TRAPS)
Epidemiology
- Nothern European families
- Families not of Mediterranean origin
Genetics: Most mutations occur in extracellular cysteine-rich domains
TNFRSF1A protein
- Tumor necrosis factor α (TNFα) receptor
- Expressed on all cells
- Mutations: Defective shedding of TNFRSF1A protein from cell membranes
Clinical features
- Fever
  - High, with chills
  - Onset: Infancy or Childhood
  - Attacks last: Mean 2 to 3 weeks; Range 3 to 75 days
- Abdominal pain
  - Diffuse
  - Nausea & Vomiting
  - Bowel obstruction: Appendicitis-like
  - Diarrhea: Occasional
- Pseudocellulitis
  - Subcutaneous inflammation
  - Warm
  - Pitting edema
- Skin rash
  - Macular; Erysipelas-like; Erythematous
  - Onset after myalgias
  - Overlies ares of myalgia
- Myalgia
  - Trunk or Limbs
  - Focal
  - Starts Proximally & Moves Distally
  - Deep cramping sensation
- Ocular
  - Conjunctivitis
  - Periorbital edema: Unilateral
- Other pain: Chest; Testicular
- Course: Chronic recurrences oiver many years
Laboratory
- MRI: Inflammation involves muscle & subcutaneous tissue, spares fascia & joints
- Biopsy³
  - Perivascular lymphocytic inflammation
  - Interstitial edema of muscle
  - Monocytic fasciitis: CD16 & CD68 positive cells
  - Perivascular T-cell inflammation
  - Muscle fibers: May remain normal
Treatment
- Some benefit from corticosteroids, etanercept, analgesics & non-steroidal anti-inflammatory drugs
- No effect of colchicine

Return to Neuromuscular home page
Return to Myopathy & NMJ Index

References

1. Muscle & Nerve 1999;22:769-771
2. Muscle & Nerve 2000;23:1569-1575, J Neurol Sci 2004;227:21�25
3. Arth Rheum 2002;46:2189-2194
4. Rheumatology 2002;41:1318-1322

12/10/2007

FOCAL MUSCLE INVOLVEMENT

Quadriceps

Quadriceps: Selective Weakness

Quadriceps: Atrophy with normal strength

Quadriceps: Strength selectively spared

Hamstring weakness

Scapular winging

FOCAL MYOSITIS2

RECURRENT FEVER WITH LOCALIZED MYOSITIS or FASCIITIS

FOCAL MYOSITIS²