Dominic Stone
A muscle biopsy is a commonly ordered diagnostic procedure used to evaluate and diagnose diseases involving muscle tissue. It involves removing a small piece of tissue, usually with a needle, to be examined under a microscope. The procedure is relatively simple and can be performed on an outpatient basis, but as with any surgical procedure, there are risks of infection, bleeding, and bruising. The muscle selected for the biopsy depends on the location of symptoms, such as pain or weakness, and is typically the bicep, deltoid, or quadriceps. The results of a muscle biopsy can help determine the source of the disease and ensure proper treatment.
| Characteristics | Values |
|---|---|
| Purpose | To diagnose diseases involving muscle tissue |
| --- | --- |
| Procedure | Removal of a small piece of tissue, usually by a needle, to be examined under a microscope |
| --- | --- |
| Types | Open biopsy, needle biopsy |
| --- | --- |
| Risks | Infection, bleeding, bruising |
| --- | --- |
| Precautions | Avoid muscle that has been recently damaged or affected by a pre-existing condition, such as nerve compression |
| --- | --- |
| Preparation | Fasting for several hours, avoiding aspirin or anticoagulants to prevent bleeding |
| --- | --- |
| Anaesthesia | Local anaesthesia for needle biopsy, general anaesthesia for open biopsy |
| --- | --- |
| Results | May take a few weeks, abnormal results could indicate an infection or disease |
| --- | --- |
| Follow-up | Further tests may be ordered to confirm a diagnosis or determine the progression of the condition |
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What You'll Learn
Muscle biopsy procedure
A muscle biopsy is a minor surgical procedure used to diagnose diseases involving muscle tissue. It is a safe, straightforward procedure with few complications. The muscle biopsy procedure will differ depending on whether it is an open biopsy or a needle biopsy.
Before the procedure, your healthcare provider will explain the process and give you instructions to prepare. You may be asked to stop taking certain medications, such as blood thinners, and to fast for a few hours before the biopsy. If you are undergoing sedation or general anaesthesia, you will need to arrange for someone to drive you home.
During the procedure, you will be asked to remove your clothing and will be given a gown to wear. The biopsy site will be cleaned with an antiseptic solution, and a local anaesthetic will be injected to numb the area. You will feel a needle stick and a brief stinging sensation.
For an open biopsy, your provider will make an incision into your skin, separating your skin, subcutaneous fat, and muscle fascia to access the underlying muscle. They will then cut out a small sample of muscle tissue and close the incision with sutures or adhesive strips. If a larger sample is required, a small incision may be made and sharp scissors may be used instead of a biopsy needle.
For a needle biopsy, your provider will insert a biopsy needle through your numbed skin and into the muscle to collect the sample. They may use ultrasound imaging to guide the instrument. Once they have enough tissue, they will remove the needle and apply pressure to stop any bleeding. The wound will then be covered with bandages and gauze.
After the procedure, it is important to keep the biopsy area clean and dry. The tissue sample will be sent to a lab for examination under a microscope.
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Muscle biopsy results
Muscle biopsy is a simple, minimally invasive procedure that helps diagnose certain muscle diseases. It involves removing a small piece of tissue from a specific muscle, usually with a needle, to diagnose disease. The muscle selected for the biopsy depends on the location of symptoms, which may include pain or weakness. The bicep, deltoid, or quadriceps are often selected for sampling.
The results of a muscle biopsy will include information on the characteristics of the muscle sample, such as the structure, health, and "age" of the muscle fibres (cells), descriptions of other cells in the tissue, like neurons (nerve cells), signs of inflammation, mitochondrial abnormalities, and glycogen and lipid storage abnormalities. The results may be available within a few days or may take a few weeks.
The results are then interpreted by a pathologist, who will look for common patterns of pathologic change observed in muscle disease. There are two major characteristic myopathologic patterns of neuromuscular disease: neurogenic, resulting from diseases of the innervating neuron; and myopathic, due to intrinsic diseases of the muscle fibre that can be inherited or acquired. It is not uncommon to have pathohistologic findings of both neurogenic and myopathic processes in a single biopsy.
In some cases, the biopsy may appear normal with only minimal signs of disease. This could be because the biopsy didn’t sample an affected part of the muscle, or because the condition is in its early stages. In such cases, another muscle biopsy may be necessary.
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Muscle biopsy risks
A muscle biopsy is a minor surgical procedure that carries some risks, as with any surgery. The procedure involves the removal of a small piece of muscle tissue for examination. This is usually done while the patient is awake, with local anaesthesia applied to the biopsy area to minimise pain and discomfort.
There is a small chance of damage to the muscle where the needle enters, but this is rare. As with any procedure that breaks the skin, there is a risk of infection or bleeding, as well as bruising. However, since the incision made during a muscle biopsy is small, especially for needle biopsies, the risk is much lower.
In some cases, patients may feel some pressure or a tugging sensation in the area where the biopsy is being taken. The muscle may also be sore for a few days after the procedure, and patients may need to take a pain reliever, as long as it is approved by their doctor.
It is important to note that a muscle biopsy should not be performed on a muscle that has been recently damaged by another procedure, such as a needle during an electromyography (EMG) test, or if there is known pre-existing muscle damage. Patients should also inform their doctor about any medications they are taking, especially blood thinners, as this can increase the risk of bleeding.
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Muscle biopsy recovery
Muscle biopsies are typically performed on an outpatient basis, but may also be performed during a hospital stay. The procedure involves removing a small piece of muscle tissue, which is then sent to a lab for analysis. The muscle selected for the biopsy will depend on the location of symptoms, which may include pain or weakness.
After a muscle biopsy, you will usually be able to go home right away, but you will need someone to drive you. Once at home, it is important to rest the biopsied muscle for a day or two and keep the biopsy site clean and dry so that it can heal properly. The biopsy area may be sore for a few days, and you may experience some pain for up to two to three days. If you have an open biopsy, the site may be sore for up to a week. You can take a pain reliever, as long as it is approved by your doctor.
You should be able to return to your normal routine within a couple of days. However, the adhesive strips used to close the wound will generally fall off within a few days. If you experience ongoing pain at the biopsy site or persisting numbness, it may be necessary to use medications or other techniques to manage the pain. In rare cases, swelling and bruising may remain at the wound site for weeks, and a hard lump (haematoma) may develop under the skin, causing pain.
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Muscle biopsy alternatives
Muscle biopsies are a commonly ordered diagnostic procedure used to evaluate patients with muscle weakness or pain and to determine the source of the disease. While the procedure is relatively straightforward and low-risk, it is invasive and carries a small risk of infection, bleeding, or bruising.
There are several alternatives to a muscle biopsy that can be used to diagnose neuromuscular disorders, infections, or abnormalities in muscle tissue. These include:
- Genetic testing: Genetic testing is increasingly being performed first, and if the results are unrevealing or uncertain, a muscle biopsy is then carried out. For example, genetic testing is available for facioscapulohumeral dystrophy and Perlecan deficiency (Schwartz-Jampel syndrome).
- Electrodiagnostic testing: This can include procedures such as an electromyography (EMG) test, which involves inserting a needle into the muscle to assess electrical activity.
- Laboratory testing: Laboratory tests can be used to evaluate clinical and laboratory features of neuromuscular disease and myopathies.
- Molecular genetic testing: This type of testing can be used to rule out a dystrophinopathy before considering a muscle biopsy.
- Ultrasound-guided muscle biopsy: This technique offers a viable alternative to surgical biopsy, providing high-quality specimens that aid in diagnosis and receiving good feedback from patients. It can be performed quickly and does not require theatre space.
- Conchotome biopsy: This technique yields a similar volume of tissue as a needle muscle biopsy, but the forceps may allow for more precise placement, which can be advantageous in diagnosing focal rather than diffuse myopathic changes.
- Immunohistochemistry: This automated procedure can be used to identify and demonstrate myofiber types in muscle biopsies. It can be performed for the different forms of myosin heavy chains found in type 1 and type 2 myofibers.
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Frequently asked questions
A muscle biopsy is a procedure used to diagnose diseases involving muscle tissue. It involves removing a small piece of tissue, usually with a needle, to be examined under a microscope.
A muscle biopsy is performed when a patient is experiencing muscle weakness or other muscle-related symptoms, and their doctor suspects an infection or disease could be the cause. It can help rule out certain conditions and aid in making a diagnosis and treatment plan.
There are two main types of muscle biopsies: open biopsy and needle biopsy. In an open biopsy, a small incision is made in the skin and muscle tissue is removed. Needle biopsies involve inserting a needle into the muscle to extract a small piece of tissue.
After the tissue sample is taken, it is sent to a laboratory for testing. Results can take up to a few weeks, and further tests may be needed to confirm a diagnosis or determine the progression of the condition.
