INDIVIDUAL WITH LGMD: Jacob
Name: Jacob Age: 6 years old Country: United States LGMD Sub-Type: LGMD2D / R3 * * * Completed by Jacob’s parents, Josh & Rachel At what age were you diagnosed? Jacob was diagnosed with LGMD2D / R3 when he was 5 years old. What were your first symptoms? We discovered Jacob’s diagnosis after a case of rhabdomyolysis during the summer of 2021. His main symptoms today are occasional rhabdo-like signals including dark urine and his legs beginning to hurt when too active without significant hydration. Do you have other family members who have LGMD? We do not have [...]
INDIVIDUAL WITH LGMD: Osman
LGMD “SPOTLIGHT INTERVIEW” Name: Osman Age: 30 yrs. old Country: Turkey LGMD Sub-Type: LGMD2D/R3 Alpha sarcoglycan-related At what age were you diagnosed? I was diagnosed at the age of 16. What were your first symptoms? Symptoms started showing around the age of seventeen. I felt the need to rest after a bit of running. I was tired while climbing stairs. After a few years, I started to hold on while climbing stairs or getting up from a seated position. At the age of 25, I started not being able to lean forward and started to walk slowly so as [...]
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 PATIENTS JOIN? We advise all LGMD2D patients to register: https://lgmd2d.org/patient-resources/register/. It is very important to have a DNA confirmed diagnosis. If your mutation is not confirmed, it can impact your medical treatment. Is your organization a Non-Profit? If so, what type: Yes, we are a non-profit organization based in the Netherlands. We only have volunteers and no overhead. WHAT [...]
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 remember much of that. We where really early on the diagnosis. What were your first symptoms: I was born pretty much simultaneously with my sister and my first symptom manifested when I started to crawl, my sister who is healthy crawled like a normal infant would whereas I crawled in a weird manner with one leg in front of the [...]
INDIVIDUAL WITH LGMD: Aleksandra
LGMD “Spotlight Interview” – A Mother’s Perspective Mother’s Name: Aleksandra Country: The Netherlands Son’s LGMD Sub-Type: LGMD2D […]
INDIVIDUAL WITH LGMD: Sabrina
08/27/2015 Name: Sabrina AGE: 32 COUNTRY: Bangladesh LGMD Sub-Type: LGMD 2D At what age were you diagnosed : At the age of 9 years old, I was diagnosed. What were your first symptoms : I was falling frequently and had difficulty with climbing stairs and running. Do you have other family members who have LGMD: Yeah! My younger sister also has LGMD. What do you find to be the greatest challenges in living with LGMD: Living with LGMD the first challenges for me were social and infrastructure barriers. Like because of Inaccessibility in our country I could not [...]
INDIVIDUAL WITH LGMD: Donavon
03/12/2015: Name: Donavon Age: 52 Country: United States LGMD Sub-Type: LGMD2D At what age were you diagnosed: I was diagnosed at the age of 16 What were your first symptoms: I was never able to run very fast and had problems running up stairs. We lived on a farm part of the time and when it came to doing chores I wasn't able to lift a full bag of feed. Do you have other family members who have LGMD: Yes, I have four sisters and two nieces with LGMD. What do you find to be the greatest challenges in living [...]
