LGMD2A

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INDIVIDUAL WITH LGMD: Jasmine

June 8, 2021|Individuals with LGMD - Interviews, LGMD2A|

Name: Jasmine Age: 24 years old Country: USA LGMD Sub-Type: LGMD 2A/R1 calpain 3-related At what age were you diagnosed? I was just recently diagnosed at the age of 24. What were your first symptoms? Toe walking was my first symptom. I’ve noticed weakness since I was a little girl. I remember in elementary school that when it was my turn to play basketball against the other team it took me forever to get up from the floor to run down to the other side of the court. I was using my hands on my knees to stand up. [...]

INDIVIDUAL WITH LGMD: Tatyana

September 4, 2020|Individuals with LGMD - Interviews, LGMD2A|

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 28, my diagnosis was confirmed genetically. What were your first symptoms: My first symptoms were difficulty with running, climbing stairs and also I never could do pull-ups. Do you have other family members who have LGMD: No, I’m the only one with LGMD in my family. What do you find to be the greatest challenges in living with LGMD: Acceptance [...]

INDIVIDUAL WITH LGMD: Denise

May 7, 2020|Individuals with LGMD - Interviews, LGMD2A|

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 when I was 39 years old. WHAT WERE YOUR FIRST SYMPTOMS: My initial symptoms were difficulty with running and climbing stairs. DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: No, I am the only family member with LGMD. WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD: My greatest challenges have been losing arm strength, [...]

INDIVIDUAL WITH LGMD: Jillena

June 12, 2019|Individuals with LGMD - Interviews, LGMD2A|

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, I received genetic confirmation of my LGMD2A subtype a couple months ago. WHAT WERE YOUR FIRST SYMPTOMS : After I had my second child, I began to notice that stairs became difficult for me. In fact, I would crawl up them. I had scoliosis so I just attributed my difficulty doing stairs to the scoliosis. But, then, I had my [...]

INDIVIDUAL WITH LGMD: Andrea

January 15, 2019|Individuals with LGMD - Interviews, LGMD2A|

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 age 8, I could not stand with my heels on the ground and began toe walking shortly thereafter. Weakness in my shoulders and hips followed. 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: Not being able [...]

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: [...]

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