Congenital Myasthenic Syndromes

Overview

Congenital myasthenic syndromes are hereditary (genetic) conditions resulting from a genetic defect at the junction where your nerve stimulates muscle activity that result in muscle weakness. Congenital myasthenic syndromes may affect your nerve cells (presynaptic), your muscle cells (postsynaptic) or the space between your nerve and muscle cells (synaptic).

Why choose Mayo Clinic

• Expertise and experience. Mayo Clinic doctors have extensive experience in diagnosing and treating congenital myasthenic syndromes, although they are rare conditions.
• Teamwork. Mayo Clinic doctors trained in nervous system conditions (neurologists), genetic conditions (medical geneticists), musculoskeletal conditions (orthopedic surgeons), eye conditions (ophthalmologists), anesthesiology and other specialties work together to evaluate and treat people who have congenital myasthenic syndromes.
• Research leaders. Mayo Clinic doctors are among world leaders in research studying genes involved in congenital myasthenic syndromes and developing cutting-edge therapies to treat congenital myasthenic syndromes.
• Individualized treatment. Your doctors will work with you to create an individualized treatment plan to help you manage your condition.
• Efficiency. In Mayo Clinic's system, your testing and treatment usually can be done in days, not weeks.

Mayo Clinic in Rochester, Minn., is ranked among the Best Hospitals for neurology and neurosurgery by U.S. News & World Report. Mayo Clinic also ranks among the Best Children's Hospitals in neurology and neurosurgery.