Muscle biopsy

In humans with weakness and low muscle tone, a muscle biopsy can help distinguish between myopathies (where the pathology is in the muscle tissue itself) and neuropathies (where the pathology is at the nerves innervating those muscles). Muscle biopsies can also help to distinguish among various types of myopathies, by microscopic analysis for differing characteristics when exposed to a variety of chemical reactions and stains.{{cite book |last1=Gonorazky |first1=HD |last2=Bönnemann |first2=CG |last3=Dowling |first3=JJ |title=The genetics of congenital myopathies. |series=Handbook of Clinical Neurology |date=2018 |volume=148 |pages=549–564 |doi=10.1016/B978-0-444-64076-5.00036-3 |pmid=29478600|isbn=9780444640765 }}{{cite journal |last1=Jungbluth |first1=Heinz |last2=Treves |first2=Susan |last3=Zorzato |first3=Francesco |last4=Sarkozy |first4=Anna |last5=Ochala |first5=Julien |last6=Sewry |first6=Caroline |last7=Phadke |first7=Rahul |last8=Gautel |first8=Mathias |last9=Muntoni |first9=Francesco |title=Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction |journal=Nature Reviews Neurology |date=2 February 2018 |volume=14 |issue=3 |pages=151–167 |doi=10.1038/nrneurol.2017.191 |pmid=29391587|s2cid=3542904 |url=http://discovery.ucl.ac.uk/10052916/ |hdl=11392/2382654 |hdl-access=free }}

However, in some cases the muscle biopsy alone is inadequate to distinguish between certain myopathies. For example, a muscle biopsy showing the nucleus pathologically located in the center of the muscle cell would indicate "centronuclear myopathy", but research has shown that a variety of myopathies can cause these centronuclear biopsy appearance, and hence the specific genetic testing becomes increasingly important.{{cite journal |vauthors=Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH |title=X-linked myotubular and centronuclear myopathies |journal=J. Neuropathol. Exp. Neurol. |volume=64 |issue=7 |pages=555–64 |date=July 2005 |pmid=16042307 |doi=10.1097/01.jnen.0000171653.17213.2e|doi-access=free }}{{cite journal |vauthors=Bitoun M, Maugenre S, Jeannet PY, etal |title=Mutations in dynamin 2 cause dominant centronuclear myopathy |journal=Nat. Genet. |volume=37 |issue=11 |pages=1207–9 |date=November 2005 |pmid=16227997 |doi=10.1038/ng1657 |s2cid=37842933 |url=https://www.hal.inserm.fr/inserm-02446662/file/Bitoun%20et%20al%20Nat.Genet.2005.pdf }}

Additionally muscle biopsy is the only certain way to clarify ones muscle fiber types. I.e. by undergoing a muscle biopsy one can get a clear picture of which type of muscles dominates his/her body.

A biopsy needle is usually inserted into a muscle, wherein a small amount of tissue remains. Alternatively, an "open biopsy" can be performed by obtaining the muscle tissue through a small surgical incision.{{cn|date=February 2022}}

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• Atrophy
• Necrosis (possibly of muscle fibers)
• Necrotizing vasculitis
• Muscular dystrophy
• Duchenne muscular dystrophy
• Becker's muscular dystrophy
• Myotubular myopathy
• Centronuclear myopathy
• Electromyogram
• Trichinosis
• Toxoplasmosis
• Myasthenia gravis
• Polymyositis
• Dermatomyositis
• Amyotrophic lateral sclerosis
• Friedreich's ataxia
• Hereditary inclusion body myopathy

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{{reflist}}

• [https://www.nlm.nih.gov/medlineplus/ency/article/003924.htm Muscle Biopsy] MedlinePlus
• [https://web.archive.org/web/20131208054000/http://therapath.com/Muscle_Biopsy.php Muscle Biopsy: Overview] Therapath Pathology

{{Muscle/soft tissue procedures}}

Category:Biopsy

Category:Muscular system