LGMD2A

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INDIVIDUAL WITH LGMD: Yasemin

April 5, 2022|Individuals with LGMD - Interviews, LGMD2A|

LGMD: “Spotlight Interview” Name: Yasemin Age: 4 years old Country: The Netherlands LGMD Sub-Type: LGMD 2A/R1 calpain 3-related At what age were you diagnosed? Our daughter was diagnosed at the age of 2. What were your first SYMPTOMS? She doesn’t have any symptoms yet. Because of the fact she grows very slowly, they did some testing at the hospital and discovered that she has very high CK levels. After further testing, they found out that she has LGMD 2A/R1. Do you have other family members who have LGMD? No one else in our family has LGMD. What do you [...]

INDIVIDUAL WITH LGMD: Sophia

January 7, 2022|Individuals with LGMD - Interviews, LGMD2A|

LGMD “Spotlight Interview” Name:  Sophia Age:  8 Country:  USA LGMD Sub-Type:  LGMD 2A/R1 calpain 3-related   At what age were you diagnosed? I was officially diagnosed at age 6 from genetic blood testing. What were your first symptoms? I had pneumonia when I was 4.5 and my mom brought me for blood work because I was sick for a long time. My liver enzyme levels were very high so the doctors started to look for a reason why. I also started walking on my toes. I was in and out of lots of hospitals and misdiagnosed for 1.5 years. It [...]

INDIVIDUAL WITH LGMD: Jade

October 17, 2021|Individuals with LGMD - Interviews, LGMD2A|

LGMD "SPOTLIGHT INTERVIEW" Name:    Jade Age:  20 years old Country:  United States LGMD Sub-Type:  LGMD 2A/R1 calpain 3-related   At what age were you diagnosed? I was officially diagnosed in March 2021, so this is all still new to me. What were your first SYMPTOMS? The first time I noticed symptoms, I thought I was just dehydrated.  I felt weak, my legs like jello, and pain in my hips.  Now that I am aware of my diagnosis, I can look back and see symptoms from as early as the age of 12.  I played softball and couldn’t make my [...]

INDIVIDUAL WITH LGMD: Sanjana

September 20, 2021|Individuals with LGMD - Interviews, LGMD2A|

LGMD "SPOTLIGHT INTERVIEW" Name:        Sanjana Age:  55 yrs. old Country:  India LGMD Sub-Type:  LGMD2A/R1 Calpain 3 - related   At what age were you diagnosed? I was diagnosed at the age of 13. What were your first SYMPTOMS? Symptoms started showing around the age of five. I would toe walk while climbing stairs or walking uphill. I needed knee support while getting up from a seated position. I would balance on my toes while sitting in a squatting position. Do you have other family members who have LGMD? Yes, my two elder brothers also have been diagnosed with LGMD2A/R1. [...]

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 [...]

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