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Neuromuscular junction disease

MedGen UID:
155665
•Concept ID:
C0751950
•
Disease or Syndrome
Synonyms: Neuromuscular Junction Disease; Neuromuscular Junction Diseases; Neuromuscular Junction Disorder; Neuromuscular Junction Disorders; Neuromuscular Transmission Disorder; Neuromuscular Transmission Disorders
SNOMED CT: Neuromuscular junction disorder (128213006)
 
Monarch Initiative: MONDO:0020124
Orphanet: ORPHA98491

Definition

Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. [from MONDO]

Professional guidelines

PubMed

Cost-minimization analysis comparing intravenous immunoglobulin with plasma exchange in the management of patients with myasthenia gravis.
Furlan JC, Barth D, Barnett C, Bril V
Muscle Nerve 2016 Jun;53(6):872-6. Epub 2015 Nov 26 doi: 10.1002/mus.24960. PMID: 26521889

Recent clinical studies

Etiology

Social, professional and neuropsychiatric outcomes in patients with myasthenia gravis.
Vitturi BK, Kim AIH, Mitre LP, Pellegrinelli A, Valerio BCO
Neurol Sci 2021 Jan;42(1):167-173. Epub 2020 Jun 26 doi: 10.1007/s10072-020-04528-w. PMID: 32592102
An investigation on the effects of carbamazepine and sodium valproate on neuromuscular transmission.
Ay H, Ethemoğlu Ö
Acta Neurol Belg 2020 Jun;120(3):545-548. Epub 2017 Sep 22 doi: 10.1007/s13760-017-0839-y. PMID: 28940165
The value of basic science in clinical diagnosis: creating coherence among signs and symptoms.
Woods NN, Brooks LR, Norman GR
Med Educ 2005 Jan;39(1):107-12. doi: 10.1111/j.1365-2929.2004.02036.x. PMID: 15612907

Diagnosis

Paraneoplastic Syndromes in Neuro-ophthalmology.
Gordon L, Dinkin M
Continuum (Minneap Minn) 2019 Oct;25(5):1401-1421. doi: 10.1212/CON.0000000000000788. PMID: 31584543
Clinical neurophysiology of neuromuscular junction disease.
Juel VC
Handb Clin Neurol 2019;161:291-303. doi: 10.1016/B978-0-444-64142-7.00055-2. PMID: 31307607
Single fiber electromyography.
Juel VC
Handb Clin Neurol 2019;160:303-310. doi: 10.1016/B978-0-444-64032-1.00019-9. PMID: 31277856
Motor neuron, nerve, and neuromuscular junction disease.
Finsterer J, Papić L, Auer-Grumbach M
Curr Opin Neurol 2011 Oct;24(5):469-74. doi: 10.1097/WCO.0b013e32834a9448. PMID: 21825986
Binocular vertical diplopia.
Brazis PW, Lee AG
Mayo Clin Proc 1998 Jan;73(1):55-66. doi: 10.1016/S0025-6196(11)63620-3. PMID: 9443680

Therapy

An investigation on the effects of carbamazepine and sodium valproate on neuromuscular transmission.
Ay H, Ethemoğlu Ö
Acta Neurol Belg 2020 Jun;120(3):545-548. Epub 2017 Sep 22 doi: 10.1007/s13760-017-0839-y. PMID: 28940165
Cost-minimization analysis comparing intravenous immunoglobulin with plasma exchange in the management of patients with myasthenia gravis.
Furlan JC, Barth D, Barnett C, Bril V
Muscle Nerve 2016 Jun;53(6):872-6. Epub 2015 Nov 26 doi: 10.1002/mus.24960. PMID: 26521889

Prognosis

Age at sampling and sex distribution of AChRAb vs. MuSKAb myasthenia gravis in a large Greek population.
Belimezi M, Kalliaropoulos A, Jiménez J, Garcia I, Mentis AA, Chrousos GP
Clin Neurol Neurosurg 2021 Sep;208:106847. Epub 2021 Jul 27 doi: 10.1016/j.clineuro.2021.106847. PMID: 34343914
Myasthenia gravis and lymphoblastic lymphoma involving the thymus: a rare association.
Uner AH, Abali H, Engin H, Akyol A, Ruacan S, Tan E, Güllü I, Altundağ K, Güler N
Leuk Lymphoma 2001 Jul;42(3):527-31. doi: 10.3109/10428190109064612. PMID: 11699420

Clinical prediction guides

Age at sampling and sex distribution of AChRAb vs. MuSKAb myasthenia gravis in a large Greek population.
Belimezi M, Kalliaropoulos A, Jiménez J, Garcia I, Mentis AA, Chrousos GP
Clin Neurol Neurosurg 2021 Sep;208:106847. Epub 2021 Jul 27 doi: 10.1016/j.clineuro.2021.106847. PMID: 34343914
Lambert-Eaton myasthenic syndrome and follicular thymic hyperplasia in systemic lupus erythematosus.
Pasqualoni E, Aubart F, Brihaye B, Sacré K, Maisonobe T, Laissy JP, Lidove O, Papo T
Lupus 2011 Jun;20(7):745-8. Epub 2011 Mar 22 doi: 10.1177/0961203310393769. PMID: 21427136
Binocular vertical diplopia.
Brazis PW, Lee AG
Mayo Clin Proc 1998 Jan;73(1):55-66. doi: 10.1016/S0025-6196(11)63620-3. PMID: 9443680

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