September 5, 2015 at 12:34 pm #75666Hello 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,
AdrianAdie1412ParticipantPosts: 2Joined: 05/09/2015October 21, 2015 at 3:56 pm #96870Re: 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
MarcsparkyParticipantPosts: 3Joined: 08/08/2015January 22, 2016 at 4:03 pm #120892Reply 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.paulshParticipantPosts: 0Joined: 22/01/2016April 30, 2016 at 6:27 pm #128369Reply To: Hello from new poster with Myofibrillar Myopathy
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.7rainbowsParticipantPosts: 23Joined: 15/02/2015July 11, 2016 at 5:21 pm #134731Reply 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.hedgehogParticipantPosts: 33Joined: 01/02/2012July 11, 2016 at 5:25 pm #134733Reply 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 xhedgehogParticipantPosts: 33Joined: 01/02/2012July 30, 2016 at 4:15 pm #135591Reply 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!paulshParticipantPosts: 0Joined: 22/01/2016August 13, 2016 at 9:29 am #136270Reply To: Hello from new poster with Myofibrillar Myopathy
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.TonyParticipantPosts: 0Joined: 23/07/2016August 16, 2016 at 12:27 pm #136393Reply To: Hello from new poster with Myofibrillar Myopathy
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.
MarymaryhazelParticipantPosts: 0Joined: 16/08/2016October 21, 2016 at 6:36 pm #143200Reply To: Hello from new poster with Myofibrillar Myopathy
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.AnnaParticipantPosts: 0Joined: 21/10/2016October 22, 2016 at 12:25 pm #143202Reply 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.
So many love songs, so little love.embayweatherModeratorPosts: 8Joined: 02/11/2015October 23, 2016 at 10:02 pm #143227Reply To: Hello from new poster with Myofibrillar Myopathy
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.
Shevvyshevvyt1ParticipantPosts: 0Joined: 16/11/2013
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