Hello from new poster with Myofibrillar Myopathy

Viewing 20 posts - 1 through 20 (of 28 total)
  • #75666
    Hello from new poster with Myofibrillar Myopathy

    Hi everybody my name is Adrian and have Myofribillar Myoathy with the Desmin Gene. Be nice to speak to others with MD especially if Myofbrillar as not much information about with regards to it. I believe it’s very similar with Limb Girdle which was initial diagnosis. I’m chair bound these days but still getting out and about as much as possible usually with a camera in hand. Anyway a big hello to you all,
    Adrian

    Adie1412
    Participant
    Posts: 2
    Joined: 05/09/2015
    #96870
    Re: Hello from new poster with Myofibrillar Myopathy

    Hi Adrian, my new consultant thinks this is my condition, I’m waiting on the results of genetic testing to confirm, I’m just hoping to get a diagnosis, I’m currently still working but finding life difficult.

    I don’t seem to get notifications on replys so I’ll keep popping back

    Marc

    sparky
    Participant
    Posts: 3
    Joined: 08/08/2015
    #96871
    Re: Hello from new poster with Myofibrillar Myopathy

    :welcome: :waving:

    I'm always the animal, my body's the cage

    I blog about nothingness www.amgroves.com

    AM
    Participant
    Posts: 4,751
    Joined: 05/03/2015
    #96872
    Re: Hello from new poster with Myofibrillar Myopathy

    Hi!, I hope that you find some others with your condition on here, If not we’ll all pitch in Lol!
    All the best!

    Shellybear
    Participant
    Posts: 364
    Joined: 09/12/2010
    #96873
    Re: Hello from new poster with Myofibrillar Myopathy

    Thanks for joining.

    Glad you have found us!

    "Even if you are not paranoid, it does not mean they are not out to get you!".

    taungfox
    Participant
    Posts: 4,630
    Joined: 27/09/2010
    #96874
    Re: Hello from new poster with Myofibrillar Myopathy

    Hi Adrian, a bid hello to you too, hop eyou are finding what you need from the forums.

    Andy

    AndyWheels
    Participant
    Posts: 5
    Joined: 22/09/2015
    #120892
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hi Adrian, I’ve recently found this organisation and have just posted a “new here” message. I too have myofibrillar myopathy but apparently due to a ZASP rather than a Desmin problem. There doesn’t seem to be a lot of information about MFM yet. I’ve has quite a few falls because of limb weakness/poor balance and have just had lots of extra rails/grab handles put around my home to try and reduce the number of times I hit the deck.

    paulsh
    Participant
    Posts: 0
    Joined: 22/01/2016
    #128369
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hi,

    Im Morvenna and I was diagnosed back in December with Myofibrillar Myopathy. I have only found two other people on the internet with it so far, we really are rare gems indeed.

    I had been chasing a diagnosis for about 8 years. My condition is progressing rather fast these days. I now use a power chair full time and had to move to a bungalow recently. I also have mild respiratory problems, for which I use a quick blast of oxygen.

    Would anyone be interested in a facebook page for MFM to correspond and maybe find others out there to share experiences with etc. Iv been thinking about setting one up.

    7rainbows
    Participant
    Posts: 23
    Joined: 15/02/2015
    #132698
    Reply To: Hello from new poster with Myofibrillar Myopathy

    There is now a facebook page for myofibrillar myopathy if you would like to take a look.

    7rainbows
    Participant
    Posts: 23
    Joined: 15/02/2015
    #134731
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hi! I also have Myofibrillar Myopathy, ZASP-related type. I have never actually met anyone else with this condition. Could I ask what age you where diagnosed and whether any family members are affected? The reason I ask this is because my family have presented a bit of a medical mystery in that I am 25 and already wheelchair dependent and have significant respiratory and other medical complications, whereas my father is 50 and also has the same faulty gene as me but no significant symptoms. He does have a few ‘sub clinical’ symptoms (slowed bowel transit and muscle cramps) but he is still very fit and healthy. According to my neurologist there are 3 possible explanations for this:

    1. I also have another type of MD/overlapping disorder
    2. There is a second genetic factor I have along with the ZASP gene that my Dad doesn’t
    3. My Dad and I actually have the same condition but the presentation of that condition is so varied that mine is very severe and his is so mild that it isn’t clinically significant.

    To investigate this further my immediate family will all be having their entire genomes sequenced as part of the Hundred Thousand Genome Project.

    In terms of your care and support, do you feel you are getting the help you need? I have recently found the Muscular Dystrophy UK Care Advisers to be very useful.

    hedgehog
    Participant
    Posts: 33
    Joined: 01/02/2012
    #134733
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hey, I’m ‘ZASP-related’ too. Never come across anyone else. Could I ask what age you where diagnosed and how your condition affects you? I am 25, diagnosed at 20 which I think is earlier than average for Myofibrillar but I think there is a lot of variation. I stopped walking 4 years ago and have been using NIV for 3 years. I have some heart problems but currently mild. One of my main problems is a complete loss of gastric transit (leading to problems with stomach emptying and very severe constipation) I also have adrenal insufficiency. These are unusual symptoms in MD. Just wondered if you had any unusual symptoms?
    Charlotte x

    hedgehog
    Participant
    Posts: 33
    Joined: 01/02/2012
    #135591
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hello hedgehog and 7rainbows. In response to your questions:
    I was diagnosed age 53 with ZASP-related MFM from foot drop that progressed to general leg/arm weakness.
    Family wise, my mum had MFM too but it appeared about 5 years later than mine and with more leg numbness than weakness (she was misdiagnosed with peripheral nerve disease rather than MFM at first because of this). I don’t have numbness (yet anyway). So it seems there can be quite a bit of variation within families.
    I do have an “unusual” symptom. I have a hiatus hernia with bad “reflux” – my neurologist says that it’s my age and not the MFM, but my mum had the same and we were both low risk for “GORD” so I’m not convinced.
    Regarding support I’ve had quite a few adaptations at home to stop me falling. I found swimming really helpful too. But I have a lot of support from my family and without their care I would not be able to live at home now. I am in the process of moving to a bungalow too. I don’t have facebook but will try to get on it.
    I read somewhere that there may be common ancestors for some MFM genes – possibly from Scandinavia. I live in the NW now but my mum’s family were originally from East Anglia. Do you know where your families originated from? We might have a common ancestor!

    paulsh
    Participant
    Posts: 0
    Joined: 22/01/2016
    #136270
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hi Adrian
    I too have just been diagnosed with myofibrilar myopathy currently servere weakness in my legs resulting in walking with crutches on a good day but wheelchair bound more often than not.
    My condition began with a limp after walking with resulting foot drop. Within a year it progressed to very limited walking ability as stated above. My original diagnosis was polymyoitis but after stuffing me full of steroids the condition did not improve.
    After tissue biopsy my consultant confirmed condition.
    Still struggling to accept the situation after leading a active life but will no doubt get there.I am 52 years of age.

    Tony
    Participant
    Posts: 0
    Joined: 23/07/2016
    #136393
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hello Adrian
    I also have Myofibrillar Myopathy but mine is linked to the myotilin gene. I am still walking with a stick but my balance isn’t good and I have trouble getting up stairs and hills. I also tire quite quickly nowadays.
    I invested in a mobility scooter earlier this year and this is a great boon when out and about as it folds so it will fit in the boot of my car. I can now keep up with my partner Alan and also my grandchildren.
    Good to have contact with other people with this rare condition.
    Mary

    maryhazel
    Participant
    Posts: 0
    Joined: 16/08/2016
    #136503
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hi. I am new here. Does anyone heard or knew about Myoshi Myopathi MD?

    Rufayda
    Participant
    Posts: 0
    Joined: 17/08/2016
    #143200
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hi,
    I’m new here. I’m Anna from the Netherlands and have also myofibrillair myopathy.
    My mutation is on the FLNC gene ( fylamin c )

    I have 2 sons ( 6 and 9 years old ) who also have muscle problems but they don’t have a diagnosis yet.

    Anna
    Participant
    Posts: 0
    Joined: 21/10/2016
    #143202
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hello and welkom. It is so good to have someone from that beautiful coountry. This is an excellent place to find many of the answers you will need.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #143208
    Reply To: Hello from new poster with Myofibrillar Myopathy

    :welcome: Anna!!

    A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adams

    sar78 sar78
    Moderator
    Posts: 2,246
    Joined: 05/03/2015
    #143216
    Reply To: Hello from new poster with Myofibrillar Myopathy

    hi Anna :welcome:

    """""""What doesn't kill you makes you stronger""""""

    Cat Cat
    Moderator
    Posts: 1,002
    Joined: 20/09/2010
    #143227
    Reply To: Hello from new poster with Myofibrillar Myopathy

    Hi Adrian,

    I have an unspecified type of Limb Girdle MD. I work part time, which is plenty! I have limited mobility now. I walk with two sticks and use a mobility scooter, which is great. Like Marc, who posted after you, I do find, at times, life difficult. Sit to stand is my main struggle at the moment. However, I suppose you have to hang on to the positives and what you can do. The forum is good to interact with others who experience similar challenges. :)

    Shevvy

    shevvyt1
    Participant
    Posts: 0
    Joined: 16/11/2013
Viewing 20 posts - 1 through 20 (of 28 total)

You must be logged in to reply to this topic.

Keep in touch