- Expertise. Mayo Clinic doctors have extensive experience in diagnosing and treating congenital myasthenic syndromes, although they are rare conditions. Congenital myasthenic syndromes are estimated to occur in about 9 out of 1,000,000 people. Mayo Clinic doctors evaluate and treat about six people with congenital myasthenic syndromes each year.
- Cutting-edge medicine. Mayo Clinic doctors offer a wide range of tests to diagnose congenital myasthenic syndromes, including electromyography (EMG), nerve conduction studies and genetic testing for specific mutations present in congenital myasthenic syndromes.
- Research. Mayo Clinic doctors study genes involved in congenital myasthenic syndromes and develop therapies to treat congenital myasthenic syndromes.
Learn more about Mayo Clinic's neurosurgery and neurology departments' expertise and rankings.
Nov. 19, 2016
- Engel AG, et al. Congenital myasthenic syndromes: Pathogenesis, diagnosis, and treatment. The Lancet. Neurology. 2015;14:420.
- De Souza PBS, et al. Clinical and genetic basis of congenital myasthenic syndromes. Arch Neuropsiquiatria. 2016;74:750.
- Engel AG. Congenital myasthenic syndromes. In: Neuromuscular Disorders of Infancy, Childhood, and Adolescence. 2nd ed. Philadelphia, Pa.: Elsevier; 2015. http://www.clinicalkey.com. Accessed Oct. 13, 2016.
- Riggin EA. Decision Support System. Mayo Clinic, Rochester, Minn. July 1, 2016.
Congenital myasthenic syndromes