INDIVIDUAL WITH LGMD: Buck
Name: Buck Age: 31 years old Country: Unites States of America LGMD Sub-Type: LGMD 2L / R12 At what age were you diagnosed? I was diagnosed at the age of 28. What were your first SYMPTOMS? My initials symptoms included weakness and pain in my legs, difficulty climbing stairs and it was hard to stand up from the ground. Do you have other family members who have LGMD? I do not have any known relatives that have been diagnosed with LGMD. What do you find to be the greatest challenges in living with LGMD? Chronic pain is [...]
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 the hospital due to a stroke the Doctors noticed that all the muscles were gone from my back and bones were protruding. Do you have other family members who have LGMD? No, I am the only one with LGMD in my family. What do you find to be the greatest challenges in living with LGMD? The greatest challenge is seeing [...]
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 growing pains and then several wrong diagnoses were given. At the age of 13, my blood levels were looked at and were off the chart. What were your first symptoms: I experienced weakness and horrible aching in both calf muscles after exercising. Do you have other family members who have LGMD: Yes, my younger brother has the same diagnosis of [...]
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 Ph.D. Johns Hopkins University in Biology. Postdoctoral research at Harvard Medical School Department of Neurobiology What led you to follow a career in research and in studying muscular dystrophy in particular? I have always been interested in science from as young as I can remember. In college I read a scientific American article on the cross bridge theory of [...]
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, IS THERE A REGISTRY AND HOW CAN PATIENTS JOIN? Yes, the Patient Registry for LGMD2L is accessible via our website at www.lgmd2l-foundation.org/patient-registration Is your organization a Non-Profit? If so, what type: Yes, U.S.-based 501 (c)(3) tax-exempt public charity. WHAT INSPIRED THE CREATION OF YOUR ORGANIZATION: Primarily, the need to develop a patient registry for individuals diagnosed with LGMD2L in order [...]
INDIVIDUAL WITH LGMD: Ralph
LGMD “SPOTLIGHT INTERVIEW” Name: Ralph AGE: 58 Yrs. Old Country: United States LGMD Sub-Type: LGMD2L / Anoctaminopathy At what age were you diagnosed: I started having symptoms at age 47, back in 2006 and was diagnosed by 2011 when LGMD2L was discovered. What were your first symptoms: Leg weakness. I was a big weightlifter and in my 30s had been bench pressing 300 pounds and squatting 400 pounds. But I felt weakness in my left leg and I went to the gym and tried to leg press with one leg at a time. My right leg was able to [...]
INDIVIDUAL WITH LGMD: Scott
LGMD “SPOTLIGHT INTERVIEW” Name: Scott Age: 48 yrs. old Country: United States LGMD Sub-Type: LGMD 2L - also known as Anoctaminopathy At what age were you diagnosed: Although my MD began about 15 years ago, I was finally diagnosed recently with limb-girdle MD Type 2L. Until now, I was only informed by doctors that it was LGMD. What were your first symptoms: I began having difficulty climbing stairs and running. Do you have other family members who have LGMD: No What do you find to be the greatest challenges in living with LGMD: I have always been an independent person. [...]
INDIVIDUAL WITH LGMD: Rod
06/25/2015: Name: Rod Age: 65 Yrs. Old Country: United States LGMD Sub-Type: LGMD2L / Anoctaminopathy At what age were you diagnosed: I was diagnosed at the age of 49. What were your first symptoms: My first symptoms included difficulty going up stairs and calf weakness. Do you have other family members who have LGMD: No, I am the only family member diagnosed with LGMD. What do you find to be the greatest challenges in living with LGMD: The greatest challenges that my LGMD2L presents are: 1) reduced mobility and 2) not being able to participate in sports that I [...]
