Myopathy differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2], Anmol Pitliya, M.B.B.S. M.D.[3]


Differentiating Various Muscle Weakness

To review the differential diagnosis of Proximal muscle weakness, click here.

To review the differential diagnosis of Distal muscle weakness, click here.

To review the differential diagnosis of Muscle weakness and Fever, click here.

To review the differential diagnosis of Muscle weakness and Myalgia, click here.

To review the differential diagnosis of Muscle weakness and Gait abnormality, click here.

To review the differential diagnosis of Muscle weakness and Neuropathy, click here.

To review the differential diagnosis of Muscle weakness and stiffness, click here.

To review the differential diagnosis of Muscle weakness and Myoglobinuria, click here.

To review the differential diagnosis of Muscle weakness and Atrophy, click here.

Organ system Disease Symptoms History Physical

Examination

Diagnosis
Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Medication−induced Corticosteroids[1] Variable Proximal + +
  • Positive h/o medications
  • Facial and sphincter muscles are usually spared
  • Normal
  • Normal
  • Normal
Statins[2] 60+ Proximal + −/+(Rhabdomyolysis)
  • N/A
  • Positive h/o medications
  • H/o other medication use
  • ↑↑ Liver enzymes
  • ↑↑
  • Necrosis
  • Degeneration, and regeneration of fibers
  • Phagocytic infiltration
  • Normal
Alcohol[3] Variable Proximal + +/−
  • Monspecific and are normal in many patients
  • Normal or ↑↑
  • Normal
  • Normal
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Endocrine Cushing's disease[4] 25 −45 Proximal +
  • N/A
  • Normal
  • Atrophy of type 2 muscle fibers, especially type 2B
Normal
Adrenal insufficiency[5] 30−50 years Proximal + +
  • Normal
  • Normal
  • Normal
Hyperaldosteronism with myopathy[6] 50 Proximal
&
distal
+

Rhabdomyolysis

  • Normal
  • Normal
  • Normal
Hyperthyroidism[7] 40 Proximal + + +
  • ↑↑
  • Non specific
Hypothyroidism[8] 55 Proximal + + + + + Rhabdomyolysis
  • ↑↑
  • Nonspecific 
  • Normal
Diabetic infraction[9] 45  Proximal + + + +
  • Normal
  • Normal
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Inflammatory/ Rheumatologic Dermatomyositis[10] 40s−50s
Can affect children
Proximal + + +
  • ↑↑
  • Perimysial mononuclear infiltrate
Polymyositis[11] > 18 years Proximal + + +
  • N/A
  • N/A
  • ↑↑
  • Endomysial mononuclear infiltrate
  • Patchy necrosis
Inclusion body myositis[12] 50s Proximal
&
distal
  • N/A
  • Antibodies to cytoplasmic 5'−nucleotidase
  • ↑↑
Fibromyalgia[13] 40−50s Generalized +
  • Normal
  • Normal
  • Normal
  • Normal
Polymyalgia Rheumatica[14] 50s Diffuse + + +
  • History of joints stiffness, worse in the morning
  • Restricted shoulder motion
  • Normal
  • Normal
  • Normal
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Genetic Becker muscular dystrophy[15] <13yrs Proximal + + +
  • Positive Grower sign
  • ↑↑
    • Muscle fibril degeneration, regeneration
    • Isolated fiber hypertrophy
    • Muscle replacement with fat and connective tissue
Duchenne muscular dystrophy[16] <13 yrs Proximal + + +
  • Early onset
  • Positive Grower sign
  • ↑↑
Limb−girdle muscular dystrophies[17] <15 yrs Proximal + + + +
  • LMNA gene
  • CAV3 gene
  • ↑↑
  • N/A
Myotonic dystrophy[18] <18 years Proximal
&
distal
+ + +
  • Positive family history
  • Muscles often contract and are unable to relax
  • Mutations in the DMPK gene
  • N/A
  • N/A
Glycogen storage disease[19] Variable Proximal +
  • ↑↑
  • Normal
  • Normal
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Infectious Lyme disease[20] Variable Proximal + + +/− +
  • H/o tick bite
  • Hiking trip
  • Clinical diagnosis
  • +Serology
  • N/A
  • N/A
  • N/A
Influenza[21] Variable Proximal and Distal + + + +
  • Cold weather
  • H/o Ill contacts
  • Muscle weakness, tenderness, and swelling.
  • ↑↑ Liver enzymes
  • Positive PCR
  • ↑↑
  • N/A
  • N/A
Polio[22] <5 yrs Proximal + + +
  • History of skipped immunization.
  • Isolation from pharyngealsecretions, CSF
  • Positive serology
  • N/A
  • N/A
  • Neurological pattern
Syphilis[23] Variable Negative + +
  • History of risk factors (MSM, unprotected sex, multiple sex partners)
  • N/A
  • N/A
  • N/A
Pyomyositis[24] Variable Proximal
&
Distal
+ + +
    • Muscles are painful, swollen, tender, and indurated.
    • Depending on the site of involvement, it may mimic appendicitis (psoas muscle), septic arthritis of the hip (iliacus muscle), or epidural abscess (piriformis muscle).
  • Leukocytosis
  • Elevated ESR
  • N/A
  • N/A
  • N/A
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Neurologic ALS[25] >35 Proximal
&
Distal
  • Distal
+ + +
  • N/A
  • Clinical diagnosis
  • Normal
  • Nonspecific findings of chronic denervation with reinnervation
  • Neuropathic
Stroke[26] >65 Proximal
&
distal
+ + +
  • Weakness of the involved arm
  • Head CT
  • Normal
  • Normal
  • Neuropathic
GBS[27] 18 −350 Proximal + +
  • Weakness of lower extremities followed by upper extremities
  • Cytologic albumin ratio
  • Normal
  • Normal
  • Neuropathic
Multiple Sclerosis[28] 30's Proximal
&
distal
+ +
  • Attacks or exacerbation
    • Localized weakness
    • Focal sensory disturbances
    • Hyper reactive reflexes
    • Increased tone or stiffness
  • Head CT ologo−clonal bands
  • Normal
  • N/A
  • Neuropathic
Organ system Disease Age of onset Muscle weakness Fever Myalgia Contractures Gait abnormality Neuropathy Atrophy Stiffness Myoglobinuria Other features History Physical

Examination

Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram
Neuromuscular Botulinum[29] Variable Distal + +
  • H/O food exposure
  • +Toxin
  • Normal
  • N/A
  • Myopathic
Lambert−Eaton syndrome[30] Variable Distal + + +
  • Weakness of the bulbar muscles
  • Ocular
  • Limb weakness
  • Weaknessa is often relieved temporarily after exertion or physical exercise.
  • Antibodies against voltage−gated calcium channels 
Myasthenia gravis[31] Variable Proximal + + +
  • Ocular
  • Bulbar 
  • Limb weakness
  • Isolated neck, limbs and respiratory weakness
  • Weakness often worsens with activity
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