Health / Medical Topics

    Congenital Myasthenic Syndrome

    A group of rare genetic neuromuscular disorders characterized by neuromuscular junction defects. The defects are classified as presynaptic, synaptic, or postsynaptic. Signs and symptoms include muscle weakness, easy fatigability, feeding and respiratory difficulties, and scoliosis. (NCI Thesaurus)




    YOU MAY ALSO LIKE

    An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period.
    Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of…
    A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid…
    A type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It…
    A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a…
    A syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous…

    © 1991-2023 The Titi Tudorancea Bulletin | Titi Tudorancea® is a Registered Trademark | Terms of use and privacy policy
    Contact