My mum has hoffmanns syndrome which is not responsive to medication. This is rare but I was wondering if any else has it or knows anything

[bagpuss10]

About it please x

[shaws Administrator]

I am sorry I didn't know what Hoffman's syndrome was but I see that it is connected to hypothyroidism. Here is a link:-

ncbi.nlm.nih.gov/pubmed/125...

This is an extract from another link:-

Although hypothyroidism causes a wide variety of neuromuscular symptoms, Hoffmann’s syndrome is a specific, rare form of hypothyroid myopathy, which causes hypertrophy of muscles. It is important to emphasize that the symptoms return to normal with hormone replacement therapy. Not only the symptoms but also the serum levels of enzymes are expected to return normal.

jns.dergisi.org/text.php3?i...

As your Mum is not responding to, I assume, levothyroxine, ask that she have a trial of Naturethroid which is a dessicated thyroid hormone which contains all of the thyroid gland hormones which we don't have. It is unlicensed by a doctor can prescribe on a 'named patient basis'. There also other ones as you can see on the list below.

thyroiduk.org.uk/tuk/treatm...

At the bottom of the above link you will see the different named dessicated thyroid hormones.

thyroiduk.org.uk/tuk/treatm...

Also, when your Mum has a thyroid gland blood test, she should not take her medication until afterwards and have the test as early as possible. She should take the medication before breakfast with one glass of water. Always get a copy of the blood tests with the ranges, so that you can post them on a new question if necessary.

Best wishes.

[shaws Administrator]

I forgot this link

thyroiduk.org.uk/tuk/treatm...

[dylandolly]

yes I have Hoffmans syndrome and if you go to my name which is dylandolly where it says "this is my symptoms hope it might help someone,"it will tell you my story,hope you can find it ok,if not let me know

[dylandolly]

severe migraine,back pain then pain in in all my muscles,after going back and forward to my GP for about 6 months he could see me changing and referred me to a neurologist who had treated me before,by this time all my muscles had gone ridged with no flexibility they were solid,my body was all swollen,I couldnt even hold cutlery,my voice went hoarse and i couldn't speak properly as my tongue swelled up and stopped me being able to pronounce word,it affected my vision it went blurred and I had pins and needles in hands feet arms and legs,I could hardly walk because my muscles were so hard ,and my face changed so much I didn't look like me after loads of tests,brain scans etc,my neurologist was baffled he couldn't figure out what was wrong,he got another doctor who deals with muscles to have a look at me,and he said it could be thyroid,they checked my results and it was so low they couldn't get a reading and my pituitary was working about 200 times faster than it should have been,the next step would have been a coma,they found out I had something rare called hoffmans syndrome and thats why I was so ill but after a week of starting levothyroxine there was a huge improvement,all the swelling,pins and needles,hard muscles were gone,I started to walk better talk better,now a year later I feel so much better,still get some migraine headache and still have sore muscles from time to time especially if I am doing something strenuous and muscles get sore when its the time of the month although I am going through the menopause at the moment,but overall I feel good now