
Muscle biopsy is a procedure that involves extracting a sample of muscle tissue for analysis. The technique was first performed by Duchenne in 1860 on a patient exhibiting symptoms of myopathy. Since then, various forms of needles have been used to extract muscle tissue, with the Bergström needle, developed in 1962, being the most commonly used in clinical practice. The Weil-Blakesley conchotome, introduced in 1979, is another popular method that is designed like a forcep with a sharp biting tip. More recently, researchers have favoured less invasive procedures, such as the microbiopsy procedure described by Hayot and colleagues in 2005. Muscle biopsies are an important diagnostic tool for patients with muscle weakness, helping to identify neuromuscular disorders, metabolic issues, and genetic defects.
| Characteristics | Values |
|---|---|
| Inventor of muscle biopsy | Duchenne (1806-1875) |
| Year of invention | 1860 |
| Needle used | Self-constructed with a trocar |
| Inventor of the Bergström needle | Bergström and Hultman |
| Year of invention of Bergström needle | 1962 |
| Bergström needle characteristics | Sharp trocar, cutting cannula, and pushing rod |
| Alternative needle | Weil-Blakesley conchotome |
| Year of invention of Weil-Blakesley conchotome | 1979 |
| Weil-Blakesley conchotome characteristics | Single structure, forcep-like with a sharp biting tip |
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What You'll Learn

The first muscle biopsy
The history of muscle biopsy dates back to 1860, when Duchenne first performed the procedure on a patient with myopathy symptoms. Duchenne (1806-1875) used a self-constructed needle with a trocar to obtain a muscle sample from a living subject without general anaesthesia. Since then, the basic and clinical science of muscle and muscle disease has progressed through three stages of development: the classical period, the modern stage, and the molecular era.
The modern technique suitable for human sampling was first described in a 1962 paper by Bergström and Hultman, who published detailed data on muscle metabolism using the needle biopsy technique. They revealed how muscle glycogen concentration changed with exercise and nutritional interventions. Bergström's needle consists of a closed hollow cylinder with a pointed tip. The needle biopsy technique has become the most commonly used method in clinical practice, for both children and adults, as well as in research.
The Weil-Blakesley conchotome, introduced by Henriksson in 1979, is another alternative semi-open muscle biopsy method. This instrument is a single structure designed like a forcep with a sharp biting tip. The conchotome has a 4-6 mm wide hollow that is inserted through a 5-10 mm skin incision. The tip is opened and closed within the tissue and then rotated to cut the muscle. The amount of muscle obtained can vary from 20 mg to 290 mg, which can be used for histology and molecular studies.
The introduction of enzyme histochemical methods by Victor Dubowitz in 1970 revolutionised the role of muscle biopsy in the diagnosis of various primary and secondary muscle diseases. The use of immunohistochemical methods in the 1980s further simplified the diagnosis of various subtypes of dystrophies.
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Needle types and techniques
Needle muscle biopsy (NMB) is a specialised procedure that involves inserting a needle about 5mm in diameter into the muscle to extract a small sample for analysis. The Bergström needle, a closed hollow cylinder with a pointed tip, is commonly used for this purpose. The suction-modified Bergström needle is a newer variation that enables less invasive procedures while maintaining the integrity of the muscle sample. The needle biopsy technique has been routinely used since 1978 and is considered quicker, less traumatic, and leaves a smaller scar compared to open biopsy.
The conchotome biopsy is another needle-based technique that utilises conchotome forceps to extract the muscle tissue. It has been found to have equivalent clinical utility to open surgical biopsies.
During the procedure, the patient is asked to remove their clothing and is provided with a gown. The skin over the biopsy site is cleaned with an antiseptic solution, and a local anaesthetic is administered to numb the area. The patient may experience a brief stinging sensation during this process.
The biopsy needle is then inserted through the numbed skin and into the muscle to collect the sample. The patient may feel some pressure or pulling during this stage. Once the needle is withdrawn, firm pressure is applied to the biopsy site to stop any bleeding. The opening in the skin is typically closed with adhesive strips or stitches, if necessary, and a sterile bandage or dressing is applied.
The muscle tissue sample obtained is then sent to a laboratory for examination. The sample is usually frozen, and thin slices are cut and stained with various dyes for microscopic analysis. Additionally, a small piece of the muscle may be preserved for examination using an electron microscope, allowing for extremely high magnification.
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Biopsy uses and benefits
Muscle biopsies are important diagnostic tools for patients with muscle weakness of unknown aetiology or suspected neuromuscular disorders. They are also used to confirm suspected cases of mitochondrial disease. The procedure involves extracting a sample of tissue, cells, or fluid from the body for laboratory testing and analysis.
Biopsies can be performed in medical offices or operating rooms, depending on the type and location of the suspected abnormality. Various muscle biopsy techniques exist, including needle muscle biopsy (NMB), conchotome biopsy, and open surgical biopsy. The choice of technique depends on the specific clinical situation and the muscle group being examined. For example, fine-needle aspiration (FNA) biopsies are used to extract small amounts of fluid and tissue from tumours, while excisional biopsies involve removing entire lumps or suspicious areas.
The benefits of muscle biopsies include their diagnostic accuracy and ability to identify new changes and structures. They are also safe, well-tolerated, and associated with few adverse events and no scarring complications. In addition, certain biopsy techniques, such as NMB and conchotome biopsies, require only local anaesthesia or light sedation, making them less invasive than open surgical biopsies.
The history of muscle biopsy dates back to 1860 when Duchenne first performed the procedure on a patient with symptoms of myopathy. Since then, the field has progressed through the classical period, the modern stage, and the molecular era, with continuous improvements in diagnostic accuracy and the development of new techniques.
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Biopsy risks and side effects
The history of muscle biopsy dates back to 1860 when Duchenne first performed the procedure on a patient exhibiting myopathy symptoms. Since then, muscle biopsy has become a critical tool for the evaluation and diagnosis of patients with acute or progressive weakness suspected of having an underlying neuromuscular disorder.
Biopsy procedures, in general, are performed to obtain tissue, cell, or fluid samples for examination by a medical pathologist. While biopsies are important diagnostic tools, especially for cancer, they come with certain risks and side effects.
Firstly, patients may experience some pain and skin numbness around the biopsy site. This discomfort should subside or ease over the next two to three days, and appropriate pain medication can be prescribed. Secondly, there is a risk of bleeding from the biopsy site, and patients may need to undergo a blood count test to check for internal bleeding. Other tests, such as a chest X-ray after a lung biopsy, may also be necessary to monitor for any complications.
Additionally, surgical medications can cause drowsiness, and patients should refrain from driving themselves home after the procedure. It is recommended to have a friend or relative provide transportation or take a taxi. Furthermore, certain precautions should be taken after the biopsy, such as resting the affected body part and keeping the wound dressing dry for a week to ten days.
In terms of muscle biopsy specifically, all types of procedures, including needle muscle biopsy, conchotome biopsy, and open surgical biopsy, are generally well-tolerated with few adverse events. However, open surgical biopsies may require general anaesthesia, while percutaneous biopsies typically use local anaesthesia.
Overall, while biopsies carry some risks and side effects, these procedures are important for diagnosis and treatment planning, and the benefits often outweigh the potential drawbacks.
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Biopsy alternatives
The history of muscle biopsy dates back to 1860 when Duchenne first performed the procedure on a patient exhibiting symptoms of myopathy. Since then, muscle biopsy has become an important diagnostic test for patients with muscle weakness of unknown aetiology.
Today, muscle biopsy techniques range from needle muscle biopsy (NMB) and conchotome biopsy to open surgical biopsy. However, the diagnostic equivalence of each biopsy technique has not been systematically compared.
Genetic testing is increasingly being performed first, and if the results are unrevealing or uncertain, a muscle biopsy is then carried out. In some cases, genetic testing may be a suitable alternative to muscle biopsy, as it is able to provide a specific diagnosis. For example, genetic testing is available for facioscapulohumeral dystrophy and Perlecan deficiency (Schwartz-Jampel syndrome).
In the case of a young boy presenting with progressive proximal weakness and hyperckemia, and whose genetic tests do not confirm a dystrophinopathy, immunohistochemical staining of the muscle biopsy specimen can often identify the pathologic protein defect and pave the way for genetic confirmation of the disease. Immunohistochemistry is an alternative method for identifying and demonstrating myofiber types in muscle biopsies. Immunohistochemical staining is also used to diagnose inflammatory myopathies.
Molecular methods have also brought spectacular progress in the utility of muscle biopsy in the twenty-first century. The development of molecular biology and its application to muscle diseases have allowed for the identification of gene defects in many inherited neuromuscular diseases, leading to accurate and specific diagnoses.
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Frequently asked questions
The history of muscle biopsy dates back to 1860, when Duchenne first performed the procedure on a patient with myopathy symptoms. However, the modern technique suitable for humans was described in a 1962 paper by Bergström and Hultman, who are credited with developing the technique.
The Bergström needle is a closed hollow cylinder with a pointed tip. It is inserted through a small skin incision and can be manoeuvred for controlled tissue penetration. The needle is often used in muscle biopsies, especially in children and adults.
The Bergström needle allows for less invasive muscle biopsies compared to traditional open biopsy techniques. It also maintains the integrity of the muscle sample.


















