Muscle biopsy

Specimen:

Tissue may be collected by needle biopsy or open biopsy (recommended). 

While some texts advocate clamping of the specimen to prevent contraction, it is generally recommended that the fresh specimen be placed on gauze and kept cool during rapid transportation to the laboratory. 

The specimen should not be placed in isotonic saline. 

In the laboratory the specimen will be orientated and portions sampled for light microscopy, electron microscopy, immunohistochemistry and histochemistry. 

Laboratory staff should be contacted for advice regarding the handling of muscle biopsy. 

Some myopathies may require chemical pathology, molecular genetics and histochemical studies. These can be done only in centres with the appropriate facilities and after consultation.

Method:

Fresh tissue: frozen section, biochemical and molecular genetic studies. 

Fixed tissue: light microscopy, immunohistochemistry, electron microscopy (special fixative).

Application:

Investigation of congenital inflammatory and metabolic myopathies (including glycogen storage disease), and neurogenic muscular disease.

Interpretation:

Categorisation of muscle disease including muscular dystrophies, polymyositis and metabolic myopathies.

Identification of denervation atrophy.

Reference:

Dubowitz V. Muscle biopsy a practical approach. 4th Ed. 2013. Saunders.