Who performs muscular (muscle) biopsies?

From the Guidelines

Muscle biopsies are typically performed by neurologists, rheumatologists, orthopedic surgeons, and interventional radiologists with specialized training in this procedure. The specific specialist who performs the biopsy often depends on the suspected underlying condition and institutional protocols 1.

Key Considerations

• The procedure involves removing a small sample of muscle tissue for laboratory analysis to diagnose various neuromuscular disorders, inflammatory myopathies, metabolic diseases, and other conditions affecting muscle tissue.
• Muscle biopsies can be performed using different techniques: needle biopsy (using a specialized hollow needle), open biopsy (involving a small incision), or occasionally through minimally invasive surgical approaches.
• The choice of technique depends on the muscle being sampled, the patient's condition, and the specific diagnostic information needed.
• Local anesthesia is typically used for the procedure, though sedation may be added for patient comfort.
• After collection, the muscle sample is immediately processed and examined by pathologists with expertise in neuromuscular disorders who analyze the tissue using various specialized staining techniques and sometimes electron microscopy to identify abnormalities in muscle structure, inflammation, or metabolic changes 1.

Diagnostic Approach

• A muscle biopsy is one of the most important investigative tools for differentiating an inflammatory from a noninflammatory myopathy and for subclassification purposes.
• It is also the gold criterion for confirming a diagnosis of idiopathic inflammatory myopathies (IIM) 1.
• In cases where the presentation is atypical, such as in juvenile dermatomyositis (JDM), a muscle biopsy should be performed, and a standardized JDM biopsy score tool should be used to quantify severity of histological abnormalities 1.
• Expert histopathological opinion is required to define features of inflammation in JDM muscle biopsy 1.

From the Research

Muscle Biopsy Performers

• Muscle biopsies are typically performed by various medical professionals, including:
  • Rheumatologists, as they are often involved in the diagnosis and treatment of idiopathic inflammatory myopathies 2
  • Neuropathologists, who play a crucial role in evaluating muscle biopsies and identifying key histopathologic features of neuromuscular diseases 3
  • Neurologists and neurosurgeons, who may perform muscle and nerve biopsies to diagnose neuromuscular disorders 4
• These medical professionals may work together to determine the best approach for a muscle biopsy, including selecting the most appropriate biopsy technique and site.

Biopsy Techniques and Sites

• Different biopsy techniques may be employed, such as:
  • Open surgical biopsy, which is commonly used by rheumatologists 2
  • Needle biopsy, which is also used in clinical practice 2, 4
  • Conchotome forceps, which is another approach used in muscle biopsies 2
• The choice of biopsy site may depend on the specific condition being diagnosed, with the quadriceps muscle being a common site for most myopathies 4.