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HEREDITARY MONOGENIC DISEASES

           

Congenital myasthenic syndrome

Congenital Myasthenia is a disease caused by a biochemical defect or structural alteration of the neuromuscular junction. Have demonstrated small nerve endings, decreased postsynaptic plates, decreased acetylcholine esterase and altered resynthesis acetylcholine.

The symptoms of this disease are present from birth and include facial weakness, ptosis and swallowing disorders. During the first months of life they have limb weakness, delayed motor development, often have episodes of aspiration and/or choking, including respiratory failure acute. There are frequent myasthenic crisis and not usually have spontaneous remissions. There are sporadic cases where the symptoms appear in adulthood.

Several types of congenital myasthenia syndrome, each one with a variety of structural abnormalities in the neuromuscular junction. The inheritance pattern, clinical symptoms, electrophysiology and response to therapy vary depending on the type. Some of subtypes that can be found include: “Child Health Family gravis”, “congenital absence of acetylcholinesterase” that usually occurs in childhood or adolescence with generalized weakness and decreased muscle tone.

Most patients remain sufficiently stable throughout life and tend not to have fluctuations in symptoms nor myasthenic crisis.

GENE OR REGION STUDIED


  • RAPSN