Sharing Mayo Clinic

Stories from patients, family, friends and Mayo Clinic staff

Items Tagged ‘Congenital Myasthenic Syndrome’

September 20, 2018 · Leave a Comment

Toddler’s Personalized Care Sparks Enormous Strides

By SharingMayoClinic SharingMayoClinic (@SharingMayoClinic)

Affected by a rare neuromuscular condition, Katie Emerson was beset by extreme muscle weakness that affected her ability to eat, speak and move. Then her mother learned about a Mayo Clinic physician whose pioneering research into Katie’s condition gave the child a chance at normalcy.

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Tags: Child and Adolescent Neurology, Congenital Myasthenic Syndrome, Dr. Andrew Engel, Dr. Duygu Selcen


October 5, 2015 · Leave a Comment

Lifetime of Seeking an Answer Finally Rewarded With a Diagnosis

By Uma Thangaraj Uma Thangaraj (@uthangaraj)

Stacy Carlson was born with congenital myasthenic syndrome, and although she received a number of opinions throughout her life, it wasn’t until age 44 that she received a definitive diagnosis. It was after her local physician referred her to Andrew Engel, M.D., a neurologist at Mayo Clinic, that DNA testing confirmed a particular gene fault responsible […]

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Tags: Congenital Myasthenic Syndrome, Dr. Andrew Engel, Scoliosis


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