Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes

Vrinten, Charlotte; Zwaag, Angeli M. van der; Weinreich, S.; Scholten, R. J. P. M.; Verschuuren, Jan J.

doi:10.1002/14651858.cd010028.pub2

Cited by 14 publications

(15 citation statements)

References 105 publications

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“…In children, ephedrine may stimulate nocturnal enuresis and sleeplessness. 15 AGRN-related CMS is rare and difficult to diagnose. By reporting a case of CMS caused by an atypical AGRN mutation, we expanded what is known about the phenotype and therapeutic options for this disease, thus laying the foundation for future research.…”

Section: Discussionmentioning

confidence: 99%

AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A Pediatric Case Report and Literature Review

et al. 2020

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The congenital myasthenia syndromes (CMS) are a group of autosomal recessive or autosomal dominant diseases that affect neuromuscular junctions. CMS caused by AGRN mutations is very uncommon typically characterized by ptosis, mild weakness, and proximal limb weakness. We report the case of an 8-year-old female who exhibited the onset of motor development retardation from infancy and slow progression to proximal muscle weakness. Repeated nerve stimulation at 3 Hz showed a clear decrement with 17%. Whole exon sequencing showed an AGRN gene compound heterozygous mutation (c.5009C >T and c.5078T > C). She was treated with salbutamol but without improvement. Then pseudoephedrine was adapted as a treatment choice and obtained remarkable curative effect. We have summarized and analyzed 12 patients who have been reported in the literature. An early age of onset and muscle weakness in the lower limbs are the main feature of an early AGRN gene mutation. Both types of AGRN-related CMS respond favorably to ephedrine. This is the first report showing that pseudoephedrine is effective as a choice for the treatment of AGRN-related CMS.

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Section: Discussionmentioning

confidence: 99%

AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A Pediatric Case Report and Literature Review

et al. 2020

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“…Drugs that activate ␤-adrenergic receptors, including ephedrine and albuterol, offer a therapeutic benefit in certain forms of congenital MG. 45,46 Ephedrine has also been used in autoimmune MG, 47 and was recently successful in a small n-of-1 trial. 48 Ghazanfari et al also used the passive transfer MuSK MG mouse model to test the effect of the ␤ 2adrenoceptor agonist albuterol.…”

Section: Treatment Of Musk Mg In Passive Transfer Modelsmentioning

confidence: 99%

Passive transfer models of myasthenia gravis with muscle‐specific kinase antibodies

Verschuuren

Plomp

Burden

et al. 2018

Annals of the New York Academy of Sciences

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Myasthenia gravis (MG) with antibodies to muscle-specific kinase (MuSK) is characterized by fluctuating fatigable weakness. In MuSK MG, involvement of bulbar muscles, neck, and shoulder and respiratory weakness are more prominent than in acetylcholine receptor (AChR) MG. MuSK autoantibodies are mainly of the IgG4 subclass, and as such are unable to activate complement, have low affinity for Fc receptors, and are functionally monovalent. Therefore, the pathogenicity of IgG4 MuSK autoantibodies was initially questioned. A broad collection of in vitro active immunization and passive transfer models has been developed that have shed light on the pathogenicity of MuSK autoantibodies. Passive transfer studies with purified IgG4 from MuSK MG patients confirmed that IgG4 is sufficient to reproduce clear clinical, electrophysiological, and histological signs of myasthenia. In vitro experiments revealed that MuSK IgG4 autoantibodies preferably bind the first Ig-like domain of MuSK, correlate with disease severity, and interfere with the association between MuSK and low-density lipoprotein receptor-related protein 4 and collagen Q. Some patients have additional IgG1 MuSK autoantibodies, but their role in the disease is unclear. Altogether, this provides a rationale for epitope-specific or IgG4-specific treatment strategies for MuSK MG and emphasizes the importance of the development of different experimental models.

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“…Administration of 3,4-diaminopyridine (amifampridine), which is effective in some forms of CMS due to the well-known pathophysiology, must be prescribed as an off-label use upon application to the health insurance. Other substances, some of which can only be obtained through the international pharmacy (for example ephedrine [32,40,43]) pose the same requirements for doctors and patients as off-label use. This kind of sustained therapy after a differentiated examination, such as in a neuropediatric medical center or a suitable specialized outpatient muscle clinic, is required in any case [44].…”

Section: Congenital Myasthenic Syndromes (Cms)mentioning

confidence: 99%

Off-Label Use in Rare Diseases: Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome and Congenital Myasthenic Syndromes

Janzen¹

2018

Neurology International Open

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AbstR Ac tThe off-label use of licensed drugs is widespread, and the risk of adverse events is elevated, especially if the scientific evidence is low. The treatment of rare diseases ( < 5/10,000) therefore may increase the risk of off-label use. The optimized standard treatment is primarily based on the regulatory decisions of the German Federal Joint Committee. The valid guidelines and the regulations of the German health system are discussed in this article. The criteria for indication and monitoring of off-label use are shown, especially focused on the problem of refractory myasthenia gravis. Escalation of treatment results regularly in off-label use. The arguments within the applicable guidelines should be followed. Some new aspects of the European regulations are likewise discussed.

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Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes

Cited by 14 publications

References 105 publications

AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A Pediatric Case Report and Literature Review

AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A Pediatric Case Report and Literature Review

Passive transfer models of myasthenia gravis with muscle‐specific kinase antibodies

Off-Label Use in Rare Diseases: Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome and Congenital Myasthenic Syndromes

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