Episode 50: Myotubular Myopathy with Kim Engst

Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls. This month, we are featuring myotubular myopathy (MTM). MTM is an X-linked genetic disorder characterized by moderate to severe muscle weakness and decreased muscle tone. Manifesting female carriers of an MTM1 mutation express a range of symptoms that vary in severity, but the following describe the general pattern seen across studies: Muscle weakness in upper and lower limbs Muscle atrophy Dyspnea Muscle fatigue Cramping Calf enlargement Wheelchair dependence Intolerance to physical activity Contractures Choking while eating Vocal changes Today we are bring on Kim Engst to discuss her experience being diagnosed with MTM. Kim is a manifesting carrier of MTM. She has a daughter and a son who passed away from MTM. She is a retired Veterinary Technician of 40 years, a career she loved! She is a lizard mom, I have 3 crested geckos: Emilio, Flora and Fauna. She is a voracious reader and enjoy doing paint by numbers kits (great for mental health and keeping her hands moving!) Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠⁠⁠⁠rememberthegirls.org⁠⁠⁠⁠⁠⁠.