Congenital Myasthenic Syndromes (CMS)
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  • Definition - One of many types of inherited disease that affect the function of processes at the junction of nerve and muscle cells; "presynaptic" syndromes affect nerve cells; "postsynaptic" syndromes affect muscle cells, and "synaptic" diseases affect the space between nerve and muscle cells.

    Cause - Defects in genes that are necessary to to make various proteins of the neuromuscular junction

    Onset - usually at or near birth, but can manifest in children or adults

    Symptoms - vary, depending on the type of CMS

    Progression - varies, depending on the type of CMS

    Inheritance - autosomal dominant, meaning it can be inherited through either parent; or autosomal recessive, when a faulty gene is inherited from each parent

    Facts About MG, LEMS and Congenital Myasthenic Syndrome



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