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Guillain-Barre syndrome, familial(GBS)

MedGen UID:
901636
Concept ID:
C4083008
Disease or Syndrome
Synonym: GBS
 
Gene (location): PMP22 (17p12)
 
Monarch Initiative: MONDO:0007691
OMIM®: 139393

Definition

Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001). Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004). [from OMIM]

Additional description

From MedlinePlus Genetics
Guillain-Barré syndrome is an autoimmune disorder that affects the nerves. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. In Guillain-Barré syndrome, the immune response damages peripheral nerves, which are the nerves that connect the central nervous system (the brain and spinal cord) to the limbs and organs. Specifically, the immune response affects a particular part of peripheral nerves called axons, which are the extensions of nerve cells (neurons) that transmit nerve impulses. Guillain-Barré syndrome can affect the neurons that control muscle movement (motor neurons); the neurons that transmit sensory signals such as pain, temperature, and touch (sensory neurons); or both. As a result, affected individuals can experience muscle weakness or lose the ability to feel certain sensations.

Muscle weakness or paralysis are the characteristic features of Guillain-Barré syndrome. The weakness often begins in the legs and spreads to the arms, torso, and face and is commonly accompanied by numbness, tingling, or pain. Additional signs and symptoms of the condition include difficulty swallowing and difficulty breathing. Occasionally, the nerves that control involuntary functions of the body such as blood pressure and heart rate are affected, which can lead to fluctuating blood pressure or an abnormal heartbeat (cardiac arrhythmia).

There are several types of Guillain-Barré syndrome, classified by the part of the peripheral nerve involved in the condition. The most common type of Guillain-Barré syndrome is acute inflammatory demyelinating polyradiculoneuropathy (AIDP). In AIDP, the immune response damages myelin, which is the covering that protects axons and promotes the efficient transmission of nerve impulses. In two other types of Guillain-Barré syndrome, acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), the axons themselves are damaged by the immune response. In AMAN, only the axons of motor neurons are damaged. In AMSAN, the axons of sensory neurons are also damaged. Because of sensory nerve damage, affected individuals can lose the ability to sense the position of their limbs and can have abnormal or absent reflexes (areflexia).

Miller Fisher syndrome, another type of Guillain-Barré syndrome, involves cranial nerves, which extend from the brain to various areas of the head and neck. Miller Fisher syndrome is characterized by three features: weakness or paralysis of the muscles that move the eyes (ophthalmoplegia), problems with balance and coordination (ataxia), and areflexia. People with this condition can have other signs and symptoms common in Guillain-Barré syndrome, such as muscle weakness.

Guillain-Barré syndrome occurs in people of all ages. The development of the condition usually follows a pattern. Prior to developing the condition, most people with Guillain-Barré syndrome have a bacterial or viral infection. The first phase of Guillain-Barré syndrome, during which signs and symptoms of the condition worsen, can last up to four weeks, although the peak of the illness is usually reached in one to two weeks. During the second phase, called the plateau, signs and symptoms of Guillain-Barré syndrome stabilize. This phase can last weeks or months. During the recovery phase, symptoms improve. However, some people with Guillain-Barré syndrome never fully recover and can still experience excessive tiredness (fatigue), muscle weakness, or muscle pain.  https://medlineplus.gov/genetics/condition/guillain-barre-syndrome

Clinical features

From HPO
Acute demyelinating polyneuropathy
MedGen UID:
870486
Concept ID:
C4024933
Anatomical Abnormality
Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.

Professional guidelines

PubMed

Yakoby J, Zurndorfer J
Adv Exp Med Biol 2024;1457:185-197. doi: 10.1007/978-3-031-61939-7_10. PMID: 39283427
Kmezic I, Samuelsson K, Finn A, Upate Z, Blennow K, Zetterberg H, Press R
Eur J Neurol 2022 Sep;29(9):2810-2822. Epub 2022 Jun 20 doi: 10.1111/ene.15428. PMID: 35638376Free PMC Article
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Recent clinical studies

Etiology

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Vaccine 2024 Apr 2;42(9):2200-2211. Epub 2024 Feb 12 doi: 10.1016/j.vaccine.2024.01.100. PMID: 38350768
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J Physiother 2022 Apr;68(2):123-129. Epub 2022 Apr 5 doi: 10.1016/j.jphys.2022.03.007. PMID: 35396175
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Mymensingh Med J 2011 Oct;20(4):748-56. PMID: 22081202
Newswanger DL, Warren CR
Am Fam Physician 2004 May 15;69(10):2405-10. PMID: 15168961

Diagnosis

Kaur D, Tiwana H, Stino A, Sandroni P
Muscle Nerve 2021 Jan;63(1):10-21. Epub 2020 Sep 14 doi: 10.1002/mus.27048. PMID: 32926436
Talukder RK, Sutradhar SR, Rahman KM, Uddin MJ, Akhter H
Mymensingh Med J 2011 Oct;20(4):748-56. PMID: 22081202
Khan F
Aust Fam Physician 2004 Dec;33(12):1013-7. PMID: 15630924
Newswanger DL, Warren CR
Am Fam Physician 2004 May 15;69(10):2405-10. PMID: 15168961
Gelinas DF
Semin Neurol 2003 Mar;23(1):89-96. doi: 10.1055/s-2003-40756. PMID: 12870110

Therapy

Faksova K, Walsh D, Jiang Y, Griffin J, Phillips A, Gentile A, Kwong JC, Macartney K, Naus M, Grange Z, Escolano S, Sepulveda G, Shetty A, Pillsbury A, Sullivan C, Naveed Z, Janjua NZ, Giglio N, Perälä J, Nasreen S, Gidding H, Hovi P, Vo T, Cui F, Deng L, Cullen L, Artama M, Lu H, Clothier HJ, Batty K, Paynter J, Petousis-Harris H, Buttery J, Black S, Hviid A
Vaccine 2024 Apr 2;42(9):2200-2211. Epub 2024 Feb 12 doi: 10.1016/j.vaccine.2024.01.100. PMID: 38350768
Shah N, Shrivastava M, Kumar S, Nagi RS
J Physiother 2022 Apr;68(2):123-129. Epub 2022 Apr 5 doi: 10.1016/j.jphys.2022.03.007. PMID: 35396175
Kaur D, Tiwana H, Stino A, Sandroni P
Muscle Nerve 2021 Jan;63(1):10-21. Epub 2020 Sep 14 doi: 10.1002/mus.27048. PMID: 32926436
Prescrire Int 2016 Nov;25(176):265-268. PMID: 30715823
Freezer NJ, Beasley SW, Robertson CF
Arch Dis Child 1990 Jan;65(1):123-6. doi: 10.1136/adc.65.1.123. PMID: 2301974Free PMC Article

Prognosis

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Torricelli RPJE
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Talukder RK, Sutradhar SR, Rahman KM, Uddin MJ, Akhter H
Mymensingh Med J 2011 Oct;20(4):748-56. PMID: 22081202
Khan F
Aust Fam Physician 2004 Dec;33(12):1013-7. PMID: 15630924
Newswanger DL, Warren CR
Am Fam Physician 2004 May 15;69(10):2405-10. PMID: 15168961

Clinical prediction guides

Hafsteinsdóttir B, Farman H, Lagerström N, Zetterberg H, Andersen O, Novakova L, Nellgård B, Rosén H, Malmeström C, Rosenstein I, Lycke J, Axelsson M
J Neurol 2024 Nov;271(11):7282-7293. Epub 2024 Sep 9 doi: 10.1007/s00415-024-12679-5. PMID: 39249104Free PMC Article
Kim S, Lee H, Lee J, Lee SW, Kwon R, Kim MS, Koyanagi A, Smith L, Fond G, Boyer L, Rahmati M, López Sánchez GF, Dragioti E, Cortese S, Shin JY, Choi A, Suh HS, Lee S, Solmi M, Min C, Shin JI, Yon DK, Fusar-Poli P
Nat Hum Behav 2024 Aug;8(8):1530-1544. Epub 2024 Jun 25 doi: 10.1038/s41562-024-01895-8. PMID: 38918517
Faksova K, Walsh D, Jiang Y, Griffin J, Phillips A, Gentile A, Kwong JC, Macartney K, Naus M, Grange Z, Escolano S, Sepulveda G, Shetty A, Pillsbury A, Sullivan C, Naveed Z, Janjua NZ, Giglio N, Perälä J, Nasreen S, Gidding H, Hovi P, Vo T, Cui F, Deng L, Cullen L, Artama M, Lu H, Clothier HJ, Batty K, Paynter J, Petousis-Harris H, Buttery J, Black S, Hviid A
Vaccine 2024 Apr 2;42(9):2200-2211. Epub 2024 Feb 12 doi: 10.1016/j.vaccine.2024.01.100. PMID: 38350768
Prescrire Int 2016 Nov;25(176):265-268. PMID: 30715823
McDonald CM
Phys Med Rehabil Clin N Am 2001 May;12(2):473-90. PMID: 11345019

Recent systematic reviews

Sanami S, Shamsabadi S, Dayhimi A, Pirhayati M, Ahmad S, Pirhayati A, Ajami M, Hemati S, Shirvani M, Alagha A, Abbarin D, Alizadeh A, Pazoki-Toroudi H
Rev Med Virol 2024 May;34(3):e2532. doi: 10.1002/rmv.2532. PMID: 38549138
Awad M, Al-Hussaniy HA, Alburghaif AH, Tawfeeq KT
J Med Life 2022 Dec;15(12):1458-1463. doi: 10.25122/jml-2022-0167. PMID: 36762328Free PMC Article
Hasan I, Saif-Ur-Rahman KM, Hayat S, Papri N, Jahan I, Azam R, Ara G, Islam Z
J Peripher Nerv Syst 2020 Dec;25(4):335-343. Epub 2020 Nov 5 doi: 10.1111/jns.12419. PMID: 33112450

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