What is a muscle biopsy?

A biopsy is the process of diagnosing diseases involving muscle tissue. The doctor removes a small portion of an especially designated muscle and examines it under a microscope.

Your doctor makes the skin incision and inserts a biopsy needle into your muscle. If more muscle tissue is needed, your doctor makes a skin incision (open biopsy) and removes a larger portion of the muscle.

The choice of muscle for biopsy will depend on where the pain or weakness is coming from. Commonly selected muscles would include:

• The bicep, found in the upper arm.
• The deltoid, found on the shoulder.
• The quadriceps, found in the thigh.

When would I need a muscle biopsy?

A muscle biopsy may be necessary when your doctor wants to check for abnormalities in your musculoskeletal system. Muscle weakness or pain may be the primary symptom of several diseases, which are often associated with the nervous, connective, vascular, and musculoskeletal systems.

A muscle biopsy will provide a source for the disease process. This will ensure proper treatment.

Your doctor may conduct a muscle biopsy to diagnose neuromuscular disorders, infections that affect your muscles, and other abnormalities in your muscle tissue. These include:

• Muscular dystrophy (MD): Generally, this is a broader term used to describe a genetic or an inherited disorder of the muscles. MD affects skeletal muscles and other systems of your body. When the muscles break down, they are replaced with fatty deposits over time. There are many types of MD.
• Duchenne muscular dystrophy (DMD): This is the most common form of MD. DMD primarily affects males.
• Becker muscular dystrophy: Like DMD, Becker MD usually develops with milder symptoms later in life.
• Myasthenia gravis (MG): A chronic, autoimmune disease in which antibodies attack the nerve-muscle connection. As a result, nerve signals are disrupted in muscles. MG impairs the body's voluntary muscles, especially your eyes, mouth, throat, and limbs.
• Polymyositis: It is a chronic disease that occurs in the skeletal muscles.
• Dermatomyositis is a collagen disorder that causes inflammation of the skin, muscles, and subcutaneous tissue, usually leading to weakened muscles.
• Amyotrophic lateral sclerosis (ALS): It is also referred to as Lou Gehrig's disease. ALS is a disease that attacks the nerves, signalling voluntary muscle movement, leading to paralysis.
• Friedreich ataxia: An inherited genetic disorder characterized by impaired balance and coordination.
• Trichinosis: A parasitic infection that occurs in raw meat. Symptoms can include muscle pain. However, the diagnosis of trichinosis is rarely done with a muscle biopsy.

There may be other reasons for your doctor to recommend a muscle biopsy.

What are the muscle groups that are being assessed in a biopsy?

In most cases, the doctor will take muscle biopsies from only one of the following muscle groups:

• Quadriceps muscle group (the broad muscle group situated at the anterior part of the thigh).
• Deltoid muscle group (muscle groups present in the shoulder's front, side, and rear parts).
• Biceps brachii muscle (the muscle present in the upper arm on the ventral aspect between shoulder and elbow).

The muscle taken for biopsy by your doctor must present with weakness or other signs or symptoms. However, your doctor will ensure that the muscle is not extremely weak or has not been subject to recent injections or trauma that may affect the outcome.

How should I prepare for a muscle biopsy?

Your doctor will discuss the procedure with you and tell you how to prepare. Please do not hesitate to ask any questions.

In general:

• It is essential that you inform your medical care team of any muscle injections or muscle testing, such as electromyography, you have had in the last six months. If you have any muscle injuries, please include this information as well.
• Your doctor will likely request you to avoid aspirin and other anticoagulant medications, such as blood thinners, before the procedure so you can avoid bleeding complications. Avoid stopping prescription drugs unless they instruct you to do so.
• You should also prepare for an extended period of fasting before the biopsy, which means not eating or drinking anything except water.
• If you are going to have sedation or general anaesthesia, you must have a driver to take you home after your biopsy.

What can I expect during a muscle biopsy procedure?

The steps of the muscle biopsy procedure vary depending on whether it is an open or needle type. In either type, you or your child will probably get sedatives or general anaesthesia before the procedure.

Open muscle biopsy

This muscle biopsy is conducted by cutting into the skin and muscle to extract a tissue sample for analysis. For most open-muscle biopsy procedures, the following steps are involved:

• First, your doctor will disinfect the skin surface to be incised (cut).
• Then, a local anaesthesia injection will be administered in that area to prevent you from feeling any hurt due to the incision.
• A certain skin area will be incised for about 4 6cm in length.
• The doctor will elevate the skin, subcutaneous tissue, and fascial tissues (connective tissues) to expose the muscle.
• A small piece of the muscle will be excised.
• The doctor then will finish the procedure by suturing both the fascia and the skin.
• The wound will be dressed with a bandage and gauze.

Needle muscle biopsy procedure

In general, the following are the steps of a needle muscle biopsy:

• First, the doctor will disinfect the area on which the biopsy will be performed.
• Then, they will inject numbing medicine to that area so that you will not experience any pain upon performing the biopsy.
• Next, your doctor will create a small cut in your skin.
• They will insert a biopsy needle through the skin's opening, which is roughly the size of a pencil, and use an ultrasound transducer to direct the needle to the target muscle.
• Afterwards, your doctor will use the instrument to make a few small cuts or snips in the muscle tissue to obtain samples. As soon as they have sufficient material, usually three or four samples, they will remove the instrument.
• Finally, they will compress the area to control the bleeding, and then the site will be dressed with bandages and gauze.

What is an after needle biopsy procedure expectation?

In the case you were provided sedation or general anaesthesia, you go to the recovery room to relax and wait for the medication to wear out. After that, you may be able to go home, but you will need someone else to drive you. Your doctor will advise you on caring for the biopsy wound.

Your doctor will then flash freeze the muscle specimen using chemicals for storage and further examination. After that, the specimen will be sent to a pathologist's office, where a pathologist who specializes in neuromuscular diseases will view it under a microscope. The pathologist may perform additional testing on the specimen, such as staining or testing for specific antibodies.

What are the possible complications of taking a muscle biopsy?

Muscle biopsies are considered safe procedures, but serious complications are rare. However, the following may occur:

• Risk of infection.
• Prolapse of the muscle within the fascial envelope (muscle herniation).
• Surgical wound dehiscence.
• Unintentional trauma to muscles, nerves, blood vessels, or tissues in the vicinity.

A scar may form at the biopsied area. Different people react differently when it comes to scarring.

How soon will I receive the result of my muscle biopsy?

The hardest part of a muscle biopsy can be waiting for a result. Your doctor will let you know how and when to expect the results. Results could be available in a matter of days or even more than a week. Bring this to your provider's attention if you do not hear about the result when you expect to.

What do the results of a muscle biopsy mean?

The results of a muscle biopsy will contain information on the characteristics of the muscle sample. This includes, for example, factors such as:

• The structure, health, and "age" of the muscle fibers (cells).
• Descriptions of other cells in the tissue, such as neurons (nerve cells).
• Presence of any signs of inflammation, mitochondrial abnormalities, and abnormalities in glycogen and lipid storage.
• Your doctor will discuss the results with you and what they mean.

Sometimes, the biopsy may be normal, with just minimal signs of disease. The pathologist may then say that you have an "unspecified myopathy." This might be because the biopsy didn't get an affected part of your muscle or because the condition is very early. You might need to have another muscle biopsy.

When should I call my doctor?

If you notice that your biopsy wound has become infected, contact your doctor. Some common symptoms can include the following:

• Swelling, skin discolouration, or redness around the wound.
• Warm skin in the area of the wound.
• Pus or discharge from the wound.
• Fever
• Fatigue.

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