Format

Send to

Choose Destination
See comment in PubMed Commons below
Eur J Paediatr Neurol. 2010 Jul;14(4):326-33. doi: 10.1016/j.ejpn.2009.09.009. Epub 2009 Nov 8.

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.

Author information

1
Dept. of Paediatric Neurology, University of Essen, Hufelandstr. 55, D-45122 Essen, Germany. ulrike.schara@uk-essen.de

Abstract

BACKGROUND:

Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous inherited disorders of the neuromuscular junction. Mutations in the acetylcholine transferase (CHAT) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worsening of myasthenic symptoms during crises caused by infections, fever or stress. Between crises symptoms may be mild and variable. Acetylcholinesterase - inhibitor therapy is reported to improve clinical symptoms and reduce crises.

PATIENTS AND METHODS:

We present data on the long-term follow-up of 11 patients with a congenital myasthenic syndrome due to nine different CHAT mutations; ten of the patients have not been previously reported.

RESULTS AND CONCLUSIONS:

Manifestation varied from the neonatal period to the age of two years, follow-up time from nine months to 12 years. This cohort of CHAT patients studied here enabled us to describe two distinct phenotypes: The neonatal-onset group suffers from apnoeic crises, respirator dependency and bulbar weakness. Apnoea should be carefully distinguished from seizures; a CMS should be taken into account early to start appropriate therapy. Infantile-onset patients show mild permanent weakness, but experience apnoeic crises and worsening which resolve with Acetylcholinesterase - inhibitor treatment. However, after several years of treatment proximal muscle strength may decrease and lead to wheelchair dependency despite the continuation of Acetylcholinesterase - inhibitor therapy.

PMID:
19900826
DOI:
10.1016/j.ejpn.2009.09.009
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center