Limb Girdle Muscular Dystrophy, Losing our Mobility

What, How, Where, Why of Limb Girdle Muscular Dystrophy

Leanne Watson / September 19, 2017

DEFINITION – 



Limb Girdle Muscular Dystrophy is the term given to a large group of rare degenerative muscle wasting conditions. There are many causes due to mutations in various genes and can be diagnosed with protein and genetic analysis. This condition does not seem to be sexist, bigoted or racist and affects people from all around the world without prejudice.

The atrophying of the muscles that define Limb Girdle Muscular Dystrophy occurs in the voluntary proximal muscles – those closest to the body. Weakness generally begins with the lower body ; glutes, hip and pelvic area, quads and hamstrings, followed by the upper body; shoulder, biceps and triceps. A small group of people with Limb Girdle Muscular Dystrophy also develop respiratory issues.

Limb Girdle Muscular Dystrophy can alter in severity of symptoms from individual to individual with most requiring some form of walking aid while others never require a wheelchair. It is thought that less severe symptoms can be experienced and occur and at a slower rate of progression with a later (late teen or adult) onset of the condition.











Limb Girdle Muscular Dystrophy can manifest itself as either an autosomal recessive or autosomal dominant depending on the inheritance pattern.

The sub type of an autosomal dominant Limb Girdle Muscular Dystrophy is generally labelled with a prefix of 1 e.g. Type1B, Type1C, Type1E



Whereas the sub type of an autosomal recessive Limb Girdle Muscular Dystrophy is generally labelled with a prefix of 2  e.g. Type2A, Type2B Type2J…. or as in my case an, as yet, Type 2 unknown subtype diagnosis. It sure makes any chance of researching a cure tricky but don’t despair as our Genome Sequencing Unit in Western Australia along with many Centres in the U.S. and the rest of the world will come up with something…sometime.

Thankyou to the Mayo Foundation Medical Education and Research for the following images.
Autosomal Dominant Inheritance Pattern
Autosomal Recessive Inheritance Pattern      

 

 

SYMPTOMS – As Limb Girdle Muscular Dystrophy is progressive muscle deterioration and personalises it’s effects from one diagnosed person to another it is quite difficult to know when or to what extent each symptom will manifest.

 

 

 

I have listed below how the symptoms of Limb Girdle Muscular Dystrophy affect our lives compiled from my experiences, anecdotal research and the generosity of the references listed further down the page for your interest and education.

While not everyone with Limb Girdle Muscular Dystrophy will end up being affected by all on this list – most will to some extent:

INABILITY to –



(either complete inability and/or requires significant adaptation)

hug those you love

rise from a toilet seat

lift your baby or grandchild

wear high heels (while still walking anyway)

be away from a toilet for more than a few hours at a time

kick a football

walk on sand and gravel

climb stairs

rise from a crouching or sitting position

step up one 2cm step

stay upright in the slightest breeze

bend over the sink to brush your teeth

breathe without apparatus

tend to your garden

stand in the shower while cleaning and ESPECIALLY while washing hair

stand in the shower at all

wash hair at all

take the roast out of oven

pour from the kettle

lift a cake mixer bowl in and out of ANY domestic cake mixer device



s

crape the cake mix out of said bowl

roll around on the floor with your baby/puppy/lover

rise from the bed

turn over in bed

wipe a tear from your eyes

eat with knife and fork

eat soup from a spoon

cut up food on a plate

feed yourself at all

pull your pants on

swim

do up buttons

writing

live in the moment

 

REFERENCES and HELPFUL LINKS

Muscular Dystrophy FoundationAustralia

Muscular Dystrophy Australia

LGMD-Info

Jain Foundation – United States

University of WA – Next Generation Sequencing

Better Health Australia – managing your chronic illness

Carer’s Australia

 

Related articleCarer’s need Caring Too

I must emphasise that I have no scientific or medical background and very much encourage you to follow your own path of discovery and education separately. All information has been researched, interpreted and relayed by me in the hope that this has been helpful enough to springboard your own quest for information and help us all gain a better understanding of this rare condition.



If you can add anything to this page or have any feedback at all I would love to hear from you.

All the best,

 

 

 

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