Open Muscle Biopsy

Jeromy Brink, MD

' ew diseases can be as disabling and debilitating as Indications

F those that involve the skeletal muscles. These disor- Indications for muscle biopsy are based on clinical suspi-
ders can eventually strip patients of all freedom and inde-
cion. Best results can be obtained only when excellent
pendence, and more often than not result in an untimely
communication exists between the primary physician,
death. Although a solid clinical diagnosis is of course
the surgeon, and the pathologist. Commonly, a biopsy of
crucial, histologic and biochemical verification is invalu-
skeletal muscle is needed when disease is suspected
able. Effective treatment depends on early and accurate
within the muscle itself (category 3), or when systemic
diagnostic measures, of which muscle biopsy remains a
conditions result in muscle destruction (category 4). Ta-
mainstay.
ble 1 lists c o m m o n indications.

Myopathies
A number of histologic changes can be seen in diseased
muscle, but essentially four underlying etiologies are to
blame:
9 Neurogenic myopathy (e.g., amyotrophic lateral
sclerosis). Diseases of the neurons or axons
supplying the muscle or muscle groups. Consis-
tently seen are changes of denervation and degen-
eration.
9 Disorders of neuromuscular transmission (e.g., myas-
thenia gravis). Biochemical or electrophysiologic
disorders affecting signal transmission between the
nerve and its muscle. Structural and biochemical
changes occur at the motor end plate, with little
destruction of the muscle itself.
9 Primary diseases affecting the muscle itself (e.g.,
Duchenne's muscular dystrophy). Specific changes
involving both destruction of the muscle fibers and
primary biochemical alterations of the fibers, such as
those seen with specific enzymatic deficiencies and
architectural distortions of the cells themselves. Both
processes can be identified histologically using spe-
cific stains.
9 Systemically induced myopathy (e.g., diabetes-in-
duced muscle necrosis). Changes identified within
the muscle secondary to a primary systemic disease,
such as diabetes mellitus, neoplasia, or endocrine
disease.
Fromthe DepartmentofSurgery,MayoClinicand MayoFoundation,Roches-
ter, MN.
AddressreprintrequeststoJeromyBrink,MD,MayoClinic,200 FirstAve.SW,
Rochester,MN55905.
Copyright2002,ElsevierScience(USA).Allfightsreserved.
1524-153X102/0403-0005535.0010
doi:10.1053/otgtl.2002.35340
Table 1. Common Indications for Muscle Biopsy
Muscular dystrophies
Polymyositis
Dermatomyositis
Inclusion body myositis
Metabolic myopathies: glycogen and lipid storage diseases
enzyme defects
Cholesterol emboli syndrome
Mitochondrial cytopathies
Diabetic muscle infarction
Sarcoid and amyloid myopathies
Procedure
The tissue obtained by open muscle biopsy is used for
biochemical analysis, immunohistochemistry, and light
and electron microscopy. Proper biopsy site selection is
critical. The muscle must be of adequate size and be free
of major nerves and vessels to allow safe removal. Addi-
tionally a large amount of known data of the muscle
selected must be available for comparison. The most com-
mon biopsy sites include the vastus lateralis, deltoid, bi-
ceps brachii, and tibialis anterior. The specific muscle
chosen for biopsy must be involved, but is ideally not the
most affected. Biopsy of such a muscle with end-stage
disease may provide "fibro-fatty" tissue with very few
muscle fibers and yield little, if any, diagnostic informa-
tion.
Most procedures can be done under a local anesthetic
in an office environment. Although this is convenient for
both physician and patient, discomfort is a major draw-
back. Unfortunately, local anesthesia cannot be adminis-
tered in the muscle bed before specimen removal as it may
cause immediate muscle fiber necrosis. The discomfort is
balanced by the considerable risks of general anesthesia.

OperativeTechniquesin General Surgery, Vol 4, No 3 (September), 2002: pp 235-238 235

236 Jeromy Brink

SURGICAL TECHNIQUE

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1 and 2 Once a site has been chosen and properly anesthetized, a 4- to 5-cm incision is made in the direction of the muscle
fibers. Dissection is carried down to the fascia of the underlying muscle. This fascia is incised to expose the underlying muscle
belly.
3 and 4 A right angle clamp is insinuated beneath a bundle of muscle fibers, and a 3-0 silk suture is passed both
proximally and distally. These fibers are secured to a wooden portion of a cotton-tipped applicator, approximately 2.5 cm long.
Once secured, the specimen is sharply removed with scissors. This allows continued stretch and normal length of a fiber
bundle, which facilitates examination by electron mmroscopy.
5 Two additional 1-cm 3 pieces of muscle are removed from the muscle belly with sharp dissection. These pieces are used for
standard histologic examination, as well as for immunohistochemistry and special biochemical analysis. The remaining muscle
bed and overlying fascia are then anesthetized.
6 The wound is irrigated, and hemostasis is achieved. The fascial wound is closed with absorbable suture in running fashion,
and the skin is approximated with a running suture.
Open Muscle Biopsy 237

7 Operative photograph showing cotton-tipped applicator anchored in place with silk sutures.
238
Many of these patients have diaphragmatic involvement
and may also be at risk for malignant hyperthermia when
placed under general anesthesia.
Postoperative Care and Potential
Complications
The w o u n d is covered with a pressure dressing, which is
routinely removed the next day. The patient is counseled
on postoperative incisional care and potential complica-
tions.
The greatest risk is the development of a hematoma at
the operative site. Given the vascularity of the muscle bed,
this is a relatively common complication. Fortunately,
these hematomas are usually small and self-limiting.
Other rare complications include infection, w o u n d dehis-
Jeromy Brink
cence, and postoperative sequela from possible injury to
surrounding nerves and vessels.
In general, open muscle biopsy is a very safe procedure.
It can be clone in the office or at the bedside with minimal
patient discomfort and relatively low risk.
REFERENCES
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tic Testingin Neurology.Philadelphia,PA,JB Lippincott, 1999, pp
305-320
3. MendellJR:Approach to the patient with muscle disease, in (eds):
Harrison's Internal Medicine. New York, NY, McGrawHill, 2001
4. Dubowitz V: Muscle Biopsy:A Practical Approach, ed 2. London,
UK, BailliereTindatl, 1985