INDIVIDUAL WITH LGMD: Brad
09/30/2015: Name: Brad Age: 51 yrs. old Country: United States LGMD Sub-Type: LGMD2B/Miyoshi Myopathy At what age were you diagnosed: I first started having symptoms at 18. But it wasn’t until about 10 years later that a neurologist told me I had Miyoshi. Then I had to wait another 10 years for the gene to be discovered before there was a way to confirm that that was what I have. What were your first symptoms: I couldn’t stand on my toes, initially just on one side. Do you have other family members who have LGMD: No What do you [...]
INDIVIDUAL WITH LGMD: Katsuya
09/28/2015: NAME: Katsuya AGE: 45 yrs. old COUNTRY: Japan LGMD Sub-Type: LGMD2B / MMD (Dysferlinopathy) At what age were you diagnosed: I was diagnosed at the age of 24. What were your first symptoms: I was not able to jump. Do you have other family members who have LGMD: Yes What do you find to be the greatest challenges in living with LGMD: It is to support a researcher. What is your greatest accomplishment: I have established PADJ (Patients Association for Dysferlinopathy Japan) which was established for the communication between Japanese and international patients with dysferlinopathy (Miyoshi myopathy, Miyoshi [...]
INDIVIDUALS WITH LGMD: Gitika & Gopika
09/17/2015 NAME: Gitika & Gopika AGE: 38 yrs old COUNTRY: India LGMD Sub-Type (if known): LGMD2B At what age were you diagnosed: We were diagnosed at the age of 21 yrs. What were your first symptoms: Our first symptoms included difficulty standing on our toes and needing to hold onto a handrails after ascending 2 floors. Do you have other family members who have LGMD: We are a set of identical twins suffering from Limb Girdle Muscular Dystrophy. There is no family history within the past 5 generations. What do you find to be the greatest challenges in living with [...]
INDIVIDUAL WITH LGMD: Ramesh
07/06/2015: NAME: Ramesh AGE: 28 yrs. old COUNTRY: India LGMD Sub-Type: LGMD2B / Dysferlinopathy AT WHAT AGE WERE YOU DIAGNOSED: I started having symptoms at the age of 19 but was not diagnosed until I was about 22 years old. WHAT WERE YOUR FIRST SYMPTOMS: My first symptom was, when I was going to office suddenly I fell down. I consulted my doctor, he suggested physical therapy but that did not help much. After that, we found it might be best to consult the doctor in Bangalore (India). I had muscle & nerve biopsy and was in a cast for [...]
INDIVIDUAL WITH LGMD: Julianna
03/01/2015: NAME: Julianna AGE: 24 COUNTRY: United States LGMD Sub-Type: LGMD2B AT WHAT AGE WERE YOU DIAGNOSED: I started having symptoms at the age of 16 but was not diagnosed until I was about 22 years old. WHAT WERE YOUR FIRST SYMPTOMS: My first symptom was tight tendons. My doctor sent me to physical therapy but that did not help much. After that, we found it might be best to have my Achilles tendons lengthened. I had surgery and was in a cast for two months on each leg, one at a time. While recovering and beginning in physical therapy [...]
INDIVIDUAL WITH LGMD: Suzanne
02/18/2015: NAME: Suzanne AGE: 45 COUNTRY: England LGMD Sub-Type: LGMD2B - Miyoshi Variant AT WHAT AGE WERE YOU DIAGNOSED: I was correctly diagnosed at around 29 yrs. old. WHAT WERE YOUR FIRST SYMPTOMS: I couldn't stand on tip-toes. DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: No WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD: The greatest challenge is finding the energy to do everything I want to do. I find that something like even getting out of a chair is such hard work. WHAT IS YOUR GREATEST ACCOMPLISHMENT: My greatest accomplishment is getting [...]
INDIVIDUAL WITH LGMD: Lydia
02/12/2014: NAME: Lydia Age: 45 COUNTRY: United States LGMD SUB-TYPE: LGMD2B / Miyoshi AT WHAT AGE WERE YOU DIAGNOSED: 41 WHAT WERE YOUR FIRST SYMPTOMS: My first symptoms included: knees popping out of place, leg, foot, chest, neck, and arm pain, falling, lethargy, strange duck-waddle gait. DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: No WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD: The progressive nature of the condition is frightening. The lethargy LGMD causes is debilitating as well. In addition to the condition, I find the lack of accessibility and social attitudes toward [...]
INDIVIDUAL WITH LGMD: José Antonio
02/06/2015: NAME: José Antonio AGE: 48 COUNTRY: México LGMD Sub-Type: LGMD 2B/Dysferlinopathy At what age were you diagnosed: at age 46 WHAT WERE YOUR FIRST SYMPTOMS: I first noticed muscle weakness at age 30. I was found to have a heart problem in my aorta, and the cardiologist thought my muscle weakness was due to that. I had an EMG and the results came back fine, but I kept falling, bumping into things, not having strength in my legs to climb stairs, or in my arms to lift heavy objects. I think the most alarming symptom was when I discovered [...]
