Advertisement

Slow-Channel Congenital Myasthenic Syndrome

  • Corrado Angelini
Chapter

Abstract

Congenital myasthenic syndromes are a group of genetically heterogeneous disorders of the neuromuscular junction that can be classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. The slow-channel syndrome is a postsynaptic congenital myasthenic syndrome, which was first described by Engel et al. in 1982, and can be caused by mutation in the genes encoding alpha, beta, delta, or epsilon (CHRNE) subunits of the acetylcholine receptor (AChR) (Table 44.1). The phenotype is characterized by dominant inheritance; selective weakness of cervical, scapular, and finger extensors and other distal muscles; and mild ophthalmoparesis. Some slow-channel syndromes cause severe disability by the end of the first decade; others present later in life and progress gradually with forearm weakness and decreased bulk of shoulder muscles. Most patients show severe involvement of cervical, wrist, and extensor muscles. While weakness and fatigability are progressive, in a few cases responses to ephedrine and salbutamol have been beneficial.

Keywords

Slow channel Epsilon and alpha subunits of acetylcholine receptor Distal myopathy 

References

  1. 1.
    Engel AG, Lambert EH, Mulder DM, et al. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol. 1982;11:553–69.PubMedCrossRefGoogle Scholar
  2. 2.
    Colomer J, Müller JS, Vernet A, Nascimento A, Pons M, Gonzalez V, Abicht A, Lochmüller H. Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. Neuromuscul Disord. 2006;16:329–33.PubMedCrossRefGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  • Corrado Angelini
    • 1
  1. 1.Dipartimento di NeuroscienzeUniversità di PadovaPadovaItaly

Personalised recommendations