INDIVIDUAL WITH LGMD: Patrick
LGMD "SPOTLIGHT INTERVIEW" NAME: Patrick AGE: 46 yrs. old COUNTRY: USA LGMD Sub-Type: LGMD 2E/R4 Bèta-sarcoglycan-related At what age were you diagnosed: I was 12, and the year was 1985. Initially, I was diagnosed Becker Muscular Dystrophy! What were your first symptoms: My first symptoms were trouble running in gym class, out of breath climbing stairs, walking and running on tip-toes. Do you have other family members who have LGMD: No, I am the only person in my family with LGMD. What do you find to be the greatest challenges in living with LGMD: One of the greatest challenges is [...]
ORGANIZATION: GFB ONLUS
NAME OF ORGANIZATION: GFB ONLUS (GRUPPO FAMILIARI BETA-SARCOGLICANOPATIE ONLUS) WEBSITE: www.lgmd2e.org FACEBOOK: www.facebook.com/gfbonlus-1045732368903903 TWITTER: twitter.com/gfbonlus WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: We focus on Limb Girdle Muscular Dystrophy type 2E (LGMD2E) IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW CAN PATIENTS JOIN? In our website we collect information regarding people affected by Lgmd2E- Lgmd2D- Lgmd2C – Lgmd2F, in accordance with the Privacy Act. Our first aim is to elaborate statistical data and in second instance we would like to create a sarcoglycanopaties patients register. Here you can read our patient statistics:http://www.beta-sarcoglicanopathy.org/index.php?option=com_content&view=article&id=47&Itemid=53 GFB [...]
INDIVIDUAL WITH LGMD: Heidi
LGMD “Spotlight Interview” Name: Heidi Age: 50 years old Country: United States LGMD Sub-Type: LGMD2E At what age were you diagnosed: I was diagnosed at the age of 33. What were your first symptoms: I was often stiff and sore, especially my legs and then weakness. Do you have other family members who have LGMD: No one else in my family is diagnosed with LGMD. What do you find to be the greatest challenges in living with LGMD: One of my main challenges is daily pain and weakness. When I was diagnosed, I was told that at some point I [...]
INDIVIDUAL WITH LGMD: Maram
07/26/2016 - LGMD "Spotlight Interview" NAME: Maram AGE: 26 years old COUNTRY: Palestine LGMD Sub-Type: LGMD2E At what age were you diagnosed: I was diagnosed with muscular dystrophy at the age of 10. When I was 26 years old, I received genetic confirmation of my LGMD2E diagnosis. What were your first symptoms: When I was 3 years old, my parents noticed that my gait was unsteady and it was difficult for me to stand up from the ground. Do you have other family members who have LGMD: No, I am the only one in my family. What do you find [...]
