Spotlight Interviews – LGMD-Info.org — The Information 'Hub' for the LGMD Community

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Are you An Individual Living with Limb Girdle Muscular Dystrophy (LGMD)? A Researcher working to find a cure and treatment for LGMD? A Representative from an organization focused on LGMD? If so, please consider volunteering to be featured in an

INDIVIDUAL WITH LGMD: Neil

Name: Neil Kramer Age: 50 Country: United States of America LGMD Sub-Type: Unknown At what age were you diagnosed: I was diagnosed at the age of 47. What were your first symptoms: I started having weakness in my legs,

ORGANIZATION: Stichting Spierkracht

LGMD ORGANIZATION: Stichting Spierkracht WEBSITE: www.stichtingSpierKracht.com FACEBOOK: https://www.facebook.com/stichtingspierkracht.nl INSTAGRAM: https://www.instagram.com/stichting_spierkracht WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: We focus on LGMD2D / R3 Alpha Sarcoglycan-related IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW CAN

LGMD CLINIC STAFF: Lauren Brady

LGMD Clinic Staff: Lauren Brady Affiliation: McMaster Children’s Hospital, Hamilton, Ontario, Canada Role or Position: Genetic Counsellor What education and training did you have to arrive at your current position? I completed my undergraduate degree at McMaster University

ORGANIZATION: Inclusive

ORGANIZATION: Inclusive WEBSITE: https://www.iminclusive.com FACEBOOK: https://www.facebook.com/Iminclusive INSTAGRAM: @iminclusive IS THERE A SPECIFIC LGMD SUB-TYPE YOUR ORGANIZATION FOCUSES ON? * Inclusive supports people living with LGMD, and Inclusive works towards making online and offline environments are accessible for People Of Determination

INDIVIDUAL WITH LGMD: Kaya

LGMD “SPOTLIGHT INTERVIEW” Name: Kaya Age: 18 yrs. old Country: Holland LGMD Sub-Type: LGMD 2D/ R3 Alpha Sarcoglycan-related At what age were you diagnosed: I believe that must have been around my third birthday though I cannot say that I

LGMD CLINIC STAFF: Rasha El Sherif

LGMD Clinic Staff: Dr. Rasha El Sherif MD, PHD Affiliation: Myocare National Foundation Role or Position: Director What education and training did you have to arrive at your current position? I completed my Doctorate degree in Neurology from

INDIVIDUAL WITH LGMD: Tatyana

LGMD “SPOTLIGHT INTERVIEW” Name: Tatyana Age: 33 yrs. old Country: Russia LGMD Sub-Type: LGMD 2A / R1 Calpain3-related At what age were you diagnosed: I was diagnosed with an unknown subtype of LGMD at 14-15. When I was 27 or

Girdie: The New LGMD Ambassador

LGMD “Spotlight Interview” LGMD Ambassador: Girdie Affliation: LGMD Awareness Foundation, Inc. ROLE: Advocacy Ambassador WHAT INSPIRED YOU TO FOLLOW A CAREER IN LIMB GIRDLE MUSCULAR DYSTROPHY ADVOCACY? As an LGMD LIMEmoji, I met a group of amazing, talented, funny,

INDIVIDUAL WITH LGMD: Dylan

LGMD “Spotlight interview” Name: Dylan Age: 28 years old Country: United States of America LGMD Sub-Type: LGMD 2J / R10 Titin-related At what age were you diagnosed: I was diagnosed at the age of 23. What were your first symptoms:

LGMD CLINIC STAFF: Brent Beson

LGMD Clinic Staff: Brent Beson, MD Affiliation: MDA Neuromuscular Center at INTEGRIS southwest Medical Center in Oklahoma City, Oklahoma Role or Position: Medical Director What education and training did you have to arrive at your current position? Medical

INDIVIDUAL WITH LGMD: Eric

LGMD “SPOTLIGHT INTERVIEW” Name: Eric Age: 23 yrs. old Country: USA LGMD Sub-Type: LGMD 2B/R2 Dysferlin-related At what age were you diagnosed: When I was two, I was misdiagnosed with Muscle Myopothy. Two decades later, I was accurately diagnosed with

INDIVIDUAL WITH LGMD: İbrahim

LGMD “SPOTLIGHT INTERVIEW” Name: İbrahim Age: 55 yrs. old Country: Turkey LGMD Sub-Type: LGMD 2B/R2 Dysferlin-related At what age were you diagnosed: I was diagnosed at the age of 25. What were your first symptoms: At first, I was

INDIVIDUAL WITH LGMD: Denise

LGMD “Spotlight Interview” NAME: Denise AGE: 49 COUNTRY: New Zealand LGMD SUB-TYPE: LGMD 2A/R1 Calpain3-related AT WHAT AGE WERE YOU DIAGNOSED: I was diagnosed with LGMD when I was 18 years and received a confirmed diagnosis of LGMD 2A/R1

LGMD RESEARCHER: Katherine Mathews

LGMD Spotlight Interview on Research LGMD RESEARCHER: Katherine D. Mathews Affiliation: University Of Iowa, Departments of Pedaitrics and Neurology Role or Position: Professor, Departments of Pediatrics and Neurology Vice Chair of Cinical Investigation, Department of Pediatrics What education and

INDIVIDUAL WITH LGMD: Chuck

LGMD “Spotlight Interview” Name: Chuck Age: 63 years old Country: Canada LGMD Sub-Type: LGMD 2L/R12 Anoctamin5-related At what age were you diagnosed? I was diagnosed at the age of 50. What were your first SYMPTOMS? When I went into

LGMD RESEARCHER: Antoine Dufour

“LGMD SPOTLIGHT ON RESEARCH” Researcher: Antoine Dufour Affiliation: University of Calgary Role or Position: Assistant Professor What education and training did you have to arrive at your current position? BA, SUNY Oswego, NY MSc and PhD, Stony Brook University, NY

ORGANIZATION: Cure VCP Disease, Inc.

NAME OF ORGANIZATION: Cure VCP Disease, Inc. WEBSITE: https://www.curevcp.org FACEBOOK: https://www.facebook.com/curevcpdisease/ TWITTER: @LostTexanInGA WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: VCP diseases and specifically Inclusion Body Myopathy associated with Paget’s disease of bone and Frontotemporal Dementia

INDIVIDUAL WITH LGMD: Patrick

LGMD “SPOTLIGHT INTERVIEW” NAME: Patrick AGE: 46 yrs. old COUNTRY: USA LGMD Sub-Type: LGMD 2E/R4 Bèta-sarcoglycan-related At what age were you diagnosed: I was 12, and the year was 1985. Initially, I was diagnosed Becker Muscular Dystrophy! What were your

INDIVIDUAL WITH LGMD: Rosamund

LGMD “SPOTLIGHT INTERVIEW” Name: Rosamund Age: 43 years old Country: England UK LGMD Sub-Type: Not known; I am still going through the tests with the John Walton Muscular Dystrophy Research Centre in Newcastle UK. At what age were you diagnosed:

Individual with LGMD: Tasha

LGMD “SPOTLIGHT INTERVIEW” Name: Tasha Age: 46 Country: United States LGMD Sub-Type: LGMD2L At what age were you diagnosed: I was diagnosed at the age of 13 but had problems since about the age of 8. They said it was

INDIVIDUAL WITH LGMD: Jillena

LGMD “Spotlight interview” Name: Jillena Age: 32 yrs. old Country: United States LGMD Sub-Type: LGMD2A – a form of Calpainopathy AT WHAT AGE WERE YOU DIAGNOSED : I was initially diagnosed with LGMD at the age of 21. And then,

ORGANIZATION: Breathe With MD

NAM E OF ORGANIZATION: Breathe with MD, Inc. WEBSITE: https://breathewithmd.org/ FACEBOOK: https://www.facebook.com/BreatheWithMD/ TWITTER: @BreatheMD WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: Breathe with MD focuses on all forms of neuromuscular diseases (NMD) including Limb Girdle Muscular Dystrophy (LGMD).

INDIVIDUAL WITH LGMD: Hasan

LGMD “SPOTLIGHT INTERVIEW” Name: Hasan AGE: 34 years old Country: Pakistan LGMD Sub-Type: Unknown At what age were you diagnosed: I was diagnosed at the age of 19 years old What were your first symptoms: Started feeling pain and

LGMD RESEARCHER: H. Criss Hartzell

“LGMD SPOTLIGHT ON RESEARCH” LGMD RESEARCHER: H. Criss Hartzell Affiliation: Emory University School of Medicine Role or Position: Professor What education and training did you have to arrive at your current position? B.A. Lawrence University, major in Chemistry and Biology

INDIVIDUAL WITH LGMD: Tasha

“LGMD Spotlight Interview” Name: Tasha Age: 27 Country: United States LGMD Sub-Type: LGMD2B At what age were you diagnosed: I was diagnosed at age 12. I was a 6th grader at that time in elementary school. What were your first

LGMD ORGANIZATION: AFM-Téléthon –

NAME OF LGMD ORGANIZATION: French LGMD Patient Group (GI LGMD) WEBSITE: https://lgmd.afm-telethon.frFACEBOOK: https://www.facebook.com/GILGMD/TWITTER: https://twitter.com/gilgmd WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUS ON?: The French LGMD Patient Group was created at the beginning of 2018 and is part of the AFM-Téléthon

ORGANIZATION: Conquistando Escalones

NAME OF ORGANIZATION: CONQUISTANDO ESCALONES WEBSITE: www.conquistandoescalones.org FACEBOOK: www.facebook.com/conquistandoescalones TWITTER: @AceDistrofia WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: We focus on Limb Girdle Muscular Dystrophy type 1F (LGMD1F) IF YOU FOCUS ON A SUB-TYPE, IS THERE

INDIVIDUAL WITH LGMD: Andrea

LGMD “SPOTLIGHT INTERVIEW” Name: Andrea Age: 24 yrs. old Country: United States LGMD Sub-Type: LGMD2A – a form of Calpainopathy At what age were you diagnosed: I was diagnosed at the age of 11. What were your first symptoms: At

INDIVIDUAL WITH LGMD: Melissa

LGMD “SPOTLIGHT INTERVIEW” Name: Melissa Age: 32 yrs. old Country: United States LGMD Sub-Type: LGMD2A (A form of Calpainopathy) At what age were you diagnosed: I was diagnosed at the age of 26. What were your first symptoms: When I

LGMD RESEARCHER: Qi Lu

“LGMD SPOTLIGHT ON RESEARCH” LGMD RESEARCHER: Dr. Qi Lu Affiliation: McColl Lockwood Laboratory for Muscular Dystrophy Research Role or Position: Director, McColl Lockwood laboratory for muscular dystrophy research, Carolinas Medical center, Atrium Health, Charlotte What education and training did you

ORGANIZATION: GFB ONLUS

NAME OF ORGANIZATION: GFB ONLUS (GRUPPO FAMILIARI BETA-SARCOGLICANOPATIE ONLUS) WEBSITE: www.lgmd2e.org FACEBOOK: www.facebook.com/gfbonlus-1045732368903903 TWITTER: twitter.com/gfbonlus WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: We focus on Limb Girdle Muscular Dystrophy type 2E (LGMD2E) IF YOU FOCUS ON A

INDIVIDUAL WITH LGMD: Heidi

LGMD “Spotlight Interview” Name: Heidi Age: 50 years old Country: United States LGMD Sub-Type: LGMD2E At what age were you diagnosed: I was diagnosed at the age of 33. What were your first symptoms: I was often stiff and sore,

ORGANIZATION: LGMD2i Research Fund

NAME OF ORGANIZATION: LGMD2i Research Fund WEBSITE: http://www.lgmd2ifund.org/ FACEBOOK: https://www.facebook.com/jeanpierre.laurent.58173 WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: We focus exclusively on LGMD2I IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW CAN PATIENTS JOIN?

LGMD RESEARCHER: Linda Lowes

LGMD “Spotlight Interview on Research” LGMD RESEARCHER: Linda Lowes Affiliation: Nationwide Children’s Hospital, Columbus, Ohio USA Role or Position: Principal Investigator, Research Institute at Nationwide Children’s Hospital, Associate Professor Department of Pediatrics, The Ohio State University What education and training did you have to

INDIVIDUAL WITH LGMD: Dan

LGMD “Spotlight interview” Name: Dan Age: 40 Yrs. Old Country: United States LGMD Sub-Type: LGMD2i At what age were you diagnosed: I was diagnosed at the age of 30. What were your first symptoms: My first symptom was leg weakness.

INDIVIDUAL WITH LGMD: Nicole

LGMD “Spotlight interview” Name: Nicole Age: 24 yrs. old Country: United States LGMD Sub-Type: LGMD 2A / Calpainopathy At what age were you diagnosed: I was diagnosed around 12 years old. What were your first symptoms: My very first symptoms

Individual with LGMD: Rodrigo

LGMD “SPOTLIGHT INTERVIEW” Name: Rodrigo Age: 29 yrs. old Country: United States LGMD Sub-Type: LGMD2B / Myoshi Myopathy At what age were you diagnosed: I was diagnosed with LGMD2B at the age of 24. What were your first symptoms: My

ORGANIZATION: Beyond Labels & Limitations

NAME OF ORGANIZATION: Beyond Labels & Limitations WEBSITE: www.BeyondLabelsLimitations.com FACEBOOK: https://www.facebook.com/groups/29111827568/ YouTube Channel: www.youtube.com/user/John71377 WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUS ON: LGMD2A / Calpainopathy IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW

INDIVIDUAL WITH LGMD: Aric

LGMD “Spotlight Interview” Name: Aric Age: 22 yrs. old Country: United States LGMD Sub-Type: LGMD2B At what age were you diagnosed: I was diagnosed at the age of 21. What were your first symptoms: My first symptoms were not

LGMD RESEARCHER: Melissa Spencer

LGMD “Spotlight Interview on Research” LGMD Researcher: Melissa Spencer Affiliation: UCLA University of California Los Angeles Role or Position: Professor of Neurology, Director of Neuromuscular Program, Co-Director of Center for Duchenne Muscular Dystrophy What education and training did you have

INDIVIDUAL WITH LGMD: Mackenzie

LGMD “Spotlight Interview” NAME: Mackenzie AGE: 22 yrs. old Country: USA LGMD Sub-Type: Unknown AT WHAT AGE WERE YOU DIAGNOSED: I was just diagnosed last year at the age of 21. WHAT WERE YOUR FIRST SYMPTOMS: My first symptoms included

ORGANIZATION: LGMD2L Foundation

NAME OF ORGANIZATION: LGMD2L Foundation WEBSITE: LGMD2L-Foundation.org Facebook: Https://www.facebook.com/LGMD2L-Foundation Twitter: @LGMD2L WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: We focus on Limb Girdle Muscular Dystrophy type 2L (LGMD2L) IF YOU FOCUS ON A SUB-TYPE,

LGMD RESEARCHER: Mattia Quattrocelli

LGMD “Spotlight Interview on Research” LGMD RESEARCHER: Mattia Quattrocelli Affiliation: McNally’s laboratory, Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL Role or Position: Postdoctoral Fellow What education and training did you have to arrive at your

INDIVIDUAL WITH LGMD: Mandine

LGMD “SPOTLIGHT INTERVIEW” Name: Mandine Age: 31 Country: France LGMD Sub-Type: LGMD2A / Calpainopathy At what age were you diagnosed: I was diagnosed with at the age of 8 years and then received confirmation that is was

ORGANIZATION: Jain Foundation

NAME OF ORGANIZATION: Jain Foundation WEBSITE: www.jain-foundation.org FACEBOOK: www.facebook.com/JainFoundation/ TWITTER: https://twitter.com/JainFoundation WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: Dysferlinopathy (LGMD2B/Miyoshi Myopathy Type 1), which are caused by mutations in the dysferlin gene. IF YOU FOCUS ON A SUB-TYPE,

LGMD RESEARCHER: Charles P. Emerson, Jr., Ph.D.

LGMD “Spotlight Interview on Research” LGMD RESEARCHER: Charles P. Emerson, Jr., Ph.D. Affiliation: Professor of Neurology; Director, UMMS Wellstone Muscular Dystrophy Program What education and training did you have to arrive at your current position? My undergraduate degree major

INDIVIDUAL WITH LGMD: Majed

LGMD “SPOTLIGHT INTERVIEW” Name: Majed Age: 20 Country: Syria / Germany LGMD Sub-type: LGMD2C AT WHAT AGE WERE YOU DIAGNOSED: I was diagnosed at age 8. WHAT WERE YOUR FIRST SYMPTOMS: The symptoms began to appear when I

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