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GTR Home > Conditions/Phenotypes > Familial infantile myasthenia

Familial infantile myasthenia

Synonyms
CHAT-Related Congenital Myasthenic Syndrome; Congenital myasthenic syndrome 6; Congenital myasthenic syndrome with episodic apnea; FIMG2 (formerly); MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; Myasthenic syndrome congenital associated with episodic apnea; Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea

Summary

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

47 tests are in the database for this condition.

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Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHOACTASE, CMS1A, CMS1A2, CMS6, CHAT
    Summary: choline O-acetyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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