My life with Myofibrillar Myopathy – Muscular Dystrophy

Lately, I’ve spoken a lot about having a rare form of Muscular Dystrophy a progressive muscle-wasting condition – If you’ve been following my journey you’ll already know and if not welcome.

I’ve never really explained in detail the type of rare Muscular Dystrophy I have and how it affects me so It’s probably time I explained a little bit about my MD maybe you know someone with MD. Or, maybe you’re new to the world of Muscular Dystrophy.

You might be surprised to know according to the muscular dystrophy UK website there are over 60 forms of muscular dystrophy – It’s a large misconception that Muscular Dystrophy is it’s own disease, but in reality, it comes under the umbrella term for several types of muscle weakening diseases. Certain types of MD can appear to be very similar but at the end of the day, all are unique and affect each individual differently.

The type of MD I have is called FHL1 Gene mutation – In other words, I’m a superhero! that comes under the family of Myofribillar Myopathy. There are different types and my type happens to fall into this category. The FHL1 gene provides instructions for making 3 versions of a protein that plays an important role in my muscles for movement (skeletal muscles) and in the heart and other Muscules within the body, You can’t just have Muscular Dystrophy you can have a type of Muscular Dystrophy.

What are Myofribillar Myopathy?

Myofibrillar myopathies are a group of conditions called myopathies that affect muscle function and cause weakness. They primarily affect skeletal muscles. A weakening of the heart muscle is also common.

Symptoms of myofibrillar myopathies can vary widely and affect each individual differently, even within the same family, for instance, my brother was diagnosed at a very young age, my mum late teens and of course myself 24. Typically depending on the underlying genetic within the family. Most people with this condition begin to develop muscle weakness (myopathy) in mid-adulthood. However, symptoms can appear anytime between infancy and late adulthood.

Common symptoms

People with myofibrillar myopathies can experience weakness in the muscles of their hands, arms ankles and calves, frequent falls caused by weakness in their feet (I always remember my friends saying it was like watching a tree fall in slow motion!) – as a progressive muscle-wasting condition weakness in the muscles closer to the body can also develop muscle pain, joint stiffness and abnormal side-to-side curvature of the spine (scoliosis).

Muscles responsible for speech and swallowing can also be affected leading to swallowing difficulties even changes in the tone of voice. Breathing can also be affected and get weaker, causing difficulties and leading to respiratory problems. You’re heart being a muscle also you may experience problems that can be mild or severe.

So now you know a little bit about my type Muscular dystrophy how does it affected my life – I can no longer walk but stand with help, rely heavily on a powered wheelchair as my new set of legs. My spine is slightly curved, my tummy leans to the left, i’ve learnt to become ambidextrous because I’m naturally right-handed and now my right hand and arm doesn’t work as well as my left. My heart likes to skip a beat every now and then but if my hubby asks it’s obviously for him! And my lungs don’t let me screen the house down which my hubby loves but my face will happily tell you mood I’m in. All in all I class myself as one of the lucky ones I don’t have any real pain and try to live a happy healthy life embracing my muscular Dystrophy as part of my identity.

I hope this has given you a little insight in my type of muscular dystrophy. As MD can affect just about anyone, most types are genetically inherited. I say most because another misconception is that they ALL are genetically inherited.

We all have our unique thumbprint within a world of billions that’s makes us 1 in a billion.

💋 Kerry

Do you have muscular dystrophy or know someone? I would love to hear from you.

Disclaimer: I must emphasise that the following information is representative of my own personal experience.

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3 thoughts on “My life with Myofibrillar Myopathy – Muscular Dystrophy

  1. I don’t have MD,doctors call what I got adult onset Alexander’s disease,affects very similar to what you got,no cure for me either,I only started to follow you a few days ago,so far it’s great,keep it going.

    Regards Francis Caffrey


  2. Thank you for explaining Kerry, I didn’t realise it could be caused by gene mutations, i wonder if Muscular Dystrophy (any type or all) is related to Mitochondrial Disease (I’m still having ongoing tests for this) genetic specialists actually found a faulty gene in me, by accident! Which is the SDHB gene, a tumour-suppressor gene. I have to have blood tests to check for any tumours quite regularly. Glad they found it by accident so that I can be kept an eye on!

    Anyway, I’m rambling, I really do enjoy learning more about all types of conditions. I find the more I know and understand about a condition, the better the relationship I have with it 💚

    Liked by 2 people

    1. Hey Ami my pleasure thank you for reading – it would definitely be interesting to see if it came under the umbrella of muscular Dystrophy but I must admit I haven’t heard if it would.
      I’m glad you’re definitely being checked regularly they accidentally came across it.
      You ramble away huni 😂 💕

      Liked by 1 person

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