INDIVIDUAL WITH LGMD: John
Name: John Age: 28 yrs. old Country: United States LGMD Sub-Type: LGMD 2J/R10 titin-related At what age were you diagnosed? At the age of 10, I was diagnosed with Becker’s MD. Around the age of 11 or 12, I was then diagnosed with Mitochondrial myopathy. In 2016 I was then diagnosed with LGMD and LGMD2J/R10 was finally genetically confirmed in 2021. What were your first SYMPTOMS? I had difficulty walking properly around the age of 5. I was experiencing tremendous calf pain when exercising and I had difficulty keeping up with other kids. Do you have other family [...]
INDIVIDUAL WITH LGMD: Lena
Name: Lena Age: 44 Country: USA LGMD Sub-Type: Limb-Girdle Muscular Dystrophy type 2J/R10 Titan-related At what age were you diagnosed? I was diagnosed at age 42. What were your first symptoms? As a preschool teacher, I noticed that it was becoming very difficult to get up from the floor. Then I started falling and losing my balance. Do you have other family members who have LGMD? My sister and I both have been diagnosed with LGMD subtype 2J, we also think that our father and all our uncles could have had it. (They are all deceased and were [...]
INDIVIDUAL WITH LGMD: Dylan
LGMD “Spotlight interview” Name: Dylan Age: 28 years old Country: United States of America LGMD Sub-Type: LGMD 2J / R10 Titin-related At what age were you diagnosed: I was diagnosed at the age of 23. What were your first symptoms: I started noticing how “normal” things got increasingly difficult for me to do – walking up flights of stairs, standing up after sitting on the floor, jumping and squatting. I had constant muscle fatigue and would randomly fall. After I lost the ability to run and the falls became more frequent, we knew something was up. Do you have other [...]
INDIVIDUAL WITH LGMD: Nicole
Name: Nicole AGE: 37 COUNTRY: United States LGMD Sub-Type: LGMD 2J (Titinopathy) […]
INDIVIDUAL WITH LGMD: Amie
LGMD “SPOTLIGHT INTERVIEW” Name: Amie Age: 31 yrs old Country: United States LGMD Sub-Type: LGMD2J (Titinopathy) At what age were you diagnosed: I was just diagnosed at the age of 31 with LGMD2J – also known as Titinopathy. What were your first symptoms: I have always had problems with my legs and walking, but was always told that it was from short Achilles tendons. After having surgeries to lengthen them, my calves atrophied. My core muscles seemed weak & I always thought it was from having two C-sections. It wasn't until this year that my body took a drastic [...]
INDIVIDUAL WITH LGMD: Kelci
LGMD “Spotlight interview” Name: Kelci Age: 23 yrs. old Country: Australia LGMD Sub-Type (if known): LGMD2J - Titinopathy At what age were you diagnosed: I was just recently diagnosed at the age of 23. What were your first symptoms: At first I noticed having to consciously think about stepping up on to pavement or ledges. I then noticed that climbing stairs was getting more difficult as well as walking distances. Do you have other family members who have LGMD: Yes, one sibling does. What do you find to be the greatest challenges in living with LGMD: The greatest challenge [...]
