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LGMD1B

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INDIVIDUAL WITH LGMD:  Maria

May 17, 2021|Individuals with LGMD - Interviews, LGMD1B|

  Name: Maria Age: 29 years old Country: USA LGMD Sub-Type: LGMD 1B   At what age were you diagnosed: Initially, I was diagnosed at age two with SMA. I was then re-diagnosed at age 15 with limb-girdle muscular dystrophy. What were your first symptoms: My parents said I didn’t walk until 17 months. I also walked with a waddle and was using my arms to help me get up from a sitting position as a toddler. Do you have other family members who have LGMD: No, I am the only person in my family with LGMD. What do [...]

INDIVIDUAL WITH LGMD: Jill

June 7, 2017|Individuals with LGMD - Interviews, LGMD1B|

LGMD "Spotlight Interview" NAME: Jill AGE: 42 COUNTRY: USA LGMD Sub-Type: autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA mutation/LGMD1B) AT WHAT AGE WERE YOU DIAGNOSED: I was diagnosed when I was 4 years old. WHAT WERE YOUR FIRST SYMPTOMS: I was slight at birth, and my aunts both recall thinking there was not enough fat and muscles on my bottom and legs. My early milestones were unremarkable; I was able to sit, crawl, walk, etc. at appropriate ages. As I entered pre-school, it was noted that I fell much more often than the other children, and I had difficulty keeping up [...]

INDIVIDUAL WITH LGMD: Karen

November 19, 2015|Individuals with LGMD - Interviews, LGMD1B|

11/19/2015 Name:  Karen   AGE: 61 yrs. old Country: United States LGMD Sub-Type: LGMD1B / Laminopathy   At what age were you diagnosed: I was diagnosed when I was 54 yrs. old. What were your first symptoms: My first symptoms included:  falling, inability to climb stairs and difficulty lifting. Do you have other family members who have LGMD: My sister, her son and his daughter,  her daughter, and a brother all have the same diagnosis.  There have been 2 that were also tested and do not have it.  LGMD1B has an autosomal dominant inheritance pattern which means that typically this disease [...]

INDIVIDUAL WITH LGMD: Andrea

May 21, 2015|Individuals with LGMD - Interviews, LGMD1B|

05/21/2015:   Name:  Andrea                 Age: 17 yrs. old Country: Norway LGMD Sub-Type: LGMD 1B / Laminopathy At what age were you diagnosed: I was about 6 months old when they discovered that something was wrong, but it wasn’t until I was about 2 years old that they decided it was muscle dystrophy. I have probably had the disease my whole life. I was 7 years old when I got the diagnosis LGMD 1B. What were your first symptoms: I couldn’t hold my head up when I started sitting on my own. Do you have other family members who have [...]

INDIVIDUAL WITH LGMD: Marjolein

May 15, 2015|Individuals with LGMD - Interviews, LGMD1B|

05/15/2015 Name:  Marjolein   Age: 27 yrs. old Country:   The Netherlands LGMD Sub-Type:   LGMD1B / Laminopathy   At what age were you diagnosed: I was diagnosed at the age of 4 with LGMD but the sub-type was unknown.  At the age of 23 I had a DNA test done which was relatively new in Holland, and that is when they found out that I had LGMD type 1B. What were your first symptoms: My mother noticed that I had trouble climbing the stairs.  My sister is 1 year and 9 months younger and she could already climb stairs but I still [...]

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