myasthenic syndrome—congenital—associated with episodic apnoea

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myasthenic syndrome—congenital—associated with episodic apnoea2016-11-27T12:52:20+00:00

myasthenic syndrome—congenital—associated with episodic apnoea

NEUROLOGY

Definition An autosomal recessive syndrome (OMIM:254210) characterised by early onset of myasthenic symptoms, episodic weakness, bulbar paralysis, and apnoea precipitated by exertion, fever, or excitement, and negative tests for anti-AChR antibodies

Molecular pathology Defects of CHAT, which encodes choline acetyltransferase, the enzyme that catalyses the synthesises acetylcholine, cause congenital myasthenic syndrome associated with episodic apnoea.  

Synonyms Myasthenic syndrome—presynaptic—congenital—associated with episodic apnoea, congenital myasthenic syndrome type IA2, familial infantile myasthenia, familial infantile myasthenia gravis

References www.genecards.org/cgi-bin/carddisp.pl?gene=CHAT

http://www.uniprot.org/uniprot/P28329

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