Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.

ABSTRACT:

Background

Transient neonatal myasthenia gravis (TNMG) affects a proportion of infants born to mothers with myasthenia gravis (MG). Symptoms usually resolve completely within the first few months of life, but persistent myopathic features have been reported in a few isolated cases.

Methods

Here we report 8 patients from 4 families born to mothers with clinically manifest MG or mothers who were asymptomatic but had elevated acetylcholine receptor (AChR) antibody levels.

Results

Clinical features in affected infants ranged from a mild predominantly facial and bulbar myopathy to arthrogryposis multiplex congenita. Additional clinical findings included hearing impairment, pyloric stenosis, and mild CNS involvement. In all cases, antibodies against the AChR were markedly e

SUBMITTER: Hacohen Y 

PROVIDER: S-EPMC4277302 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature