Girdie Limelight Banner 092122

LGMD2A

Home/LGMD2A

INDIVIDUAL WITH LGMD: Melissa

December 11, 2018|Individuals with LGMD - Interviews, LGMD2A|

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 was 5 years old I had trouble running, had an enlarged leg muscle, would trip often and also struggled to get up from the floor. Do you have other family members who have LGMD: No, I am the only person in my family with the diagnosis of LGMD2A What do you find to be the greatest challenges in living with [...]

INDIVIDUAL WITH LGMD: Nicole

September 29, 2018|Individuals with LGMD - Interviews, LGMD2A|

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 were tippy toe walking. Do you have other family members who have LGMD: No one else in my family has LGMD. What do you find to be the greatest challenges in living with LGMD: As of lately, one of my biggest challenges is maintaining energy and stamina throughout the day. I have also been having difficulty dealing with the ever-changing [...]

ORGANIZATION: Beyond Labels & Limitations

September 21, 2018|LGMD Organization - Interviews, LGMD2A, ORGANIZATION|

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 CAN PATIENTS JOIN? Coalition to Cure Calpain 3 maintains the Global LGMD2A Patient Registry which can be accessed online. IS YOUR ORGANIZATION A NON-PROFIT:         Yes, we are a 501(c)3 non-profit organization. WHAT INSPIRED THE CREATION OF YOUR ORGANIZATION: I, John C.Graybill II, established BL&L for two reasons. The first reason was to raise money for research. From 1995 until 2006 [...]

LGMD RESEARCHER:   Melissa Spencer

September 12, 2018|LGMD Researcher - Interviews, LGMD2A, RESEARCHER|

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 to arrive at your current position? I had not had an interest in science during high school and had started college as a dance major.  In fact, I only took one science course in high school, Physiology.  In college, I took a general physiology class and became so interested in the subject, I changed my major and graduated with a [...]

INDIVIDUAL WITH LGMD: Mandine

August 8, 2018|Individuals with LGMD - Interviews, LGMD2A|

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 LGMD2A when I was 15 years old. What were your first symptoms: I was always walking on tiptoe and I had heavy calves. As an adolescent, I began to lose my muscular strength. Do you have other family members who have LGMD: No, I’m the only one. What do you find to be the greatest challenges in living with LGMD: [...]

INDIVIDUAL WITH LGMD: Anne

June 3, 2018|Individuals with LGMD - Interviews, LGMD2A|

LGMD “Spotlight Interview” Name:  Anne   Age:  56 yrs. old   Country:  United States LGMD Sub-Type:  LGMD2A – also known as Calpainopathy At what age were you diagnosed: For having Muscular Dystrophy, I was diagnosed around 4 years of age. The specific 2A diagnosis didn’t happen until a DNA test at the age of 46. What were your first symptoms: My first symptom was that I walked on my toes and a “gut” feeling that my mom got that things just weren’t right. Do you have other family members who have LGMD: No, I am the only person in my family. What [...]

INDIVIDUAL WITH LGMD: Anamaria

May 11, 2018|Individuals with LGMD - Interviews, LGMD2A|

LGMD “SPOTLIGHT INTERVIEW’   NAME:  Anamaria    AGE:  25 years old COUNTRY:  Romania LGMD Sub-type:  LGMD2A / Calpainopathy   At what age were you diagnosed: I was diagnosed this year by the genetic testing of  ”whole exome sequencing”. What were your first symptoms: The first symptoms occurred around the age of 23 when I had vertigo, and all the doctors guided me to check my inner ear. It is worth mentioning that I did the clinical test with the neurologist, but at that time I had no problem. Over time I began to climb stairs hard, to get up awkward from the [...]

ORGANIZATION: Coalition to Cure Calpain 3

April 15, 2018|LGMD Organization - Interviews, LGMD2A, ORGANIZATION|

NAME OF ORGANIZATION:         Coalition to Cure Calpain 3 WEBSITE:             CureCalpain3.org FACEBOOK:        Coalition to Cure Calpain 3: Overcoming LGMD2A/Calpainopathy Twitter:                 @CureCalpain3   WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUS ON:  LGMD2A, a form of Calpainopathy IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW CAN PATIENTS JOIN? Yes, we maintain the global LGMD2A Patient Registry.  It’s easy to sign up at www.lgmd2a.org Is your organization a Non-Profit? If so, what type:         Yes, we are a U.S.-based 501 (c)(3) tax-exempt public charity WHAT INSPIRED THE CREATION OF YOUR ORGANIZATION: Coalition to Cure [...]

Go to Top