Late presentations of congenital myasthenic syndromes: How many do we miss?

Muscle & Nerve
Nidhi GargStephen W Reddel

Abstract

Congenital myasthenic syndromes (CMS) usually present neonatally or in early childhood. When they present later, they may be mistaken for seronegative autoimmune myasthenia, and unnecessary immunosuppressive treatment may be administered. Patients who met criteria for seronegative generalized myasthenia without congenital or early childhood onset, but with an affected sibling were tested for CMS associated genes using exome and Sanger sequencing. Four sibling pairs from nonconsanguineous families were identified. Three had mutations in the RAPSN gene, and 1 had a mutation in CHRNA1. One sibling of a pair with symptoms of fatigue but no convincing features of neuromuscular dysfunction tested negative on genetic studies. The definite CMS cases comprised 7 of 25 seronegative patients with definite generalized myasthenia in the clinic, and over half had been treated for autoimmune myasthenia. CMS is probably underdiagnosed in seronegative myasthenic disorders and should be considered in the differential diagnosis. Muscle Nerve 54: 721-727, 2016.

References

Jan 16, 2002·American Journal of Human Genetics·Kinji OhnoMargherita Milone
Sep 2, 2006·Brain : a Journal of Neurology·Judy CossinsDavid Beeson
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Andrew G Engel
Jun 28, 2007·Clinical Genetics·R A MaselliR L Wollmann
Jun 3, 2008·Brain : a Journal of Neurology·Maria Isabel LeiteAngela Vincent
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Oct 29, 2010·Nature·UNKNOWN 1000 Genomes Project ConsortiumGil A McVean
Nov 23, 2011·Neuromuscular Disorders : NMD·Andrew G Engel
Mar 15, 2013·Revue neurologique·B EymardUNKNOWN Membres du réseau national Syndromes Myasthéniques Congénitaux
Mar 8, 2013·Practical Neurology·Sarah FinlaysonJacqueline Palace
Sep 3, 2013·Current Opinion in Neurology·Daniel HantaïBruno Eymard
Feb 7, 2014·Archives of Disease in Childhood·Jeremy Ross ParrSandeep Jayawant

❮ Previous
Next ❯

Citations

Sep 11, 2017·American Journal of Medical Genetics. Part a·James J DowlingCraig Campbell
Nov 16, 2017·Médecine sciences : M/S·Oana CatarAleksandra Nadaj-Pakleza
Oct 21, 2017·Muscle & Nerve·Samantha J LoRusso, Stanley J Iyadurai
May 17, 2017·Neurology. Genetics·Yoshiteru AzumaHanns Lochmüller
Dec 17, 2018·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Lorenzo MaggiRenato Mantegazza
Jan 14, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Yanyan MaDingguo Shen
Feb 22, 2017·Journal of Clinical Neuromuscular Disease·David LacomisGil I Wolfe
Jul 30, 2016·Current Opinion in Neurology·David Beeson
Feb 6, 2018·Neuromuscular Disorders : NMD·Hacer DurmusAndrew G Engel
Mar 15, 2021·Clinical Neurology and Neurosurgery·Marco FernandesLuís Santos

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.