Sharing Mayo Clinic

Stories from patients, family, friends and Mayo Clinic staff

Items Tagged ‘Congenital Myasthenic Syndrome’

September 20, 2018

Toddler’s Personalized Care Sparks Enormous Strides

By 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

Lifetime of Seeking an Answer Finally Rewarded With a Diagnosis

By Uma Thangaraj Uma Thangaraj

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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