INDIVIDUAL WITH LGMD: Victoria
Name: Victoria Age: 38 Country: USA LGMD Sub-Type: LGMD D1 DNAJB6-related At what age were you diagnosed? At 37, I received an official diagnosis although I was suspected to have MD (unknown type) since age 14. What were your first synptoms? My first symptoms included difficulty running, climbing stairs, and rising from a seated position. In general, there was overall weakness in my arms and legs. Do you have other family members who have LGMD? No, I am the only person in my family to have LGMD. What do you find to be the greatest challenges in living [...]
INDIVIDUAL WITH LGMD: Peter
Name: Peter Age: 10 Country: USA LGMD Sub-Type: LGMD 2C/R5 gamma-sarcoglycanopathy * Completed by Peter's mother At what age were you diagnosed? I was diagnosed at the age of 9. Mom and Dad started noticing worsening muscle weakness that grew to be very concerning, so we took Peter to the PCP for labs to check for a neuromuscular disorder. We found an elevated CK and began our diagnostic journey – genetic testing confirmed LGMD 2C. What were your first SYMPTOMS? Early symptoms 6-7 y/o included calf hypertrophy, slight toe-walking, and inability to keep up with peers in age-appropriate sports (ie [...]
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: Heather
Name: Heather Age: 60 years old Country: USA LGMD Sub-Type: LGMD2A/R1 calpain 3-related At what age were you diagnosed? I was diagnosed at the age of 30. What were your first SYMPTOMS? My first symptoms included walking with a side-to-side gait, struggling to do stairs, and falling. Do you have other family members who have LGMD? No, I am the only one in my family with LGMD. What do you find to be the greatest challenges in living with LGMD? The greatest challenge for me is to stay as independent as possible without assistance. So far, I’ve been [...]
INDIVIDUAL WITH LGMD: Boonsub
Name: Boonsub Age: 31 Country: THAILAND LGMD Sub-Type: LGMD 2A/R1 calpain3-related At what age were you diagnosed? I was diagnosed at the age of 20. What were your first symptoms? Rhabdomyolysis (Muscle pain and dark urine) due to heavy exercise. Do you have other family members who have LGMD? No, I do not have any family members with LGMD. What do you find to be the greatest challenges in living with LGMD? Since I was diagnosed, running and climbing the stairs have been challenging. Thus, I have no opportunity to participate with others to do adventurous activities. What is [...]
INDIVIDUAL WITH LGMD: Arthur
Name: Arthur Age: 13 Country: France LGMD Sub-Type: LGMD 2C/R5 Gamma Sarcoglycan-related At what age were you diagnosed? I was diagnosed when I was 9 years old. What were your first symptoms? Since I was little I have had trouble running and getting up from the ground, but also climbing stairs. Do you have other family members who have LGMD? No, I have a sister but she doesn’t have LGMD. What do you find to be the greatest challenges in living with LGMD? It’s not easy to make our difficulties understood when we are children, often people believe that [...]
INDIVIDUAL WITH LGMD: Buck
Name: Buck Age: 31 years old Country: Unites States of America LGMD Sub-Type: LGMD 2L / R12 At what age were you diagnosed? I was diagnosed at the age of 28. What were your first SYMPTOMS? My initials symptoms included weakness and pain in my legs, difficulty climbing stairs and it was hard to stand up from the ground. Do you have other family members who have LGMD? I do not have any known relatives that have been diagnosed with LGMD. What do you find to be the greatest challenges in living with LGMD? Chronic pain is [...]
INDIVIDUAL WITH LGMD: Yasemin
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: 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: Sophia
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 [...]
