Naslov
Congenital myasthenic syndromes

Autori
Barišić, Nina ; Lochmueller, Hanns.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, pregledni

Izvornik
Neurol Croat / - , 2004

Skup
1. hrvatski kongres o neuromuskularnim bolestima

Mjesto i datum
Dubrovnik, Hrvatska, 22.09.2004. - 25.09.2004

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Domaća recenzija

Ključne riječi
Congenital myasthenic syndrome; molecular genetics; electrophysiology; acetylcholine receptors

Sažetak
CMS are genetically determined disorders affecting safety margins of neuromuscular transmission at presynaptic, synaptic and postsynaptic. The diagnosis of CMS is made on clinical symptoms including fatiguable muscle weakness since infancy or childhood, decremental EMG response and negative AChR antibodies. In some CMS the onset is delayed, weakness and EMG abnormalities appear intermitently in restricted distribution. Investigations of CMS include light and electronmicroscopy of EP morphology, electrophysiology of EP function, currents and potentials, molecular genetic analysis and expression studies with mutatnt molecule. Presynaptic forms include CMS associated with episodic apnea and decreased ACh resynthesis and vesicular filling, CMS with paucity of synaptic vesicles, and CMS with EMG findings resembling to Lambert-Eaton syndrome. Presynaptic CMS are associated with recessive ChAT (Cholinacyltransferase)mutations. The synaptic form is caused by mutation of collagenic tail subunit of AChE gene. However the most of CMS are postsynaptic, mostly caused by mutations of AChR subunits. Various mutations of the epsilon-AChR subunit gene have been reported in CMS. In general, nonsense or frame shifting mutations cause CMS by decreased or absent protein expression and are inherited in autosomal recessive traits. Rapsyn mutations cause primary endplate AChR deficiency. CMS due to splice mutation (IVS 7 2A/G) in the epsilon AChR subunit gene and a novel compound heterozygous missense ChAT gene mutation in a patient with CMS associated with apneas will be presented.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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