Looking for a doctor specialized in diagnosing METABOLIC muscle disorders?

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I am looking for a physician in the Manchester (UK) area, that is specialized in diagnosing metabolic muscle disorders and would be grateful for any recommendations.

Alternatively, what type of doctor is trained in diagnosing and treating metabolic muscle disorders. Is it a neurologist, a rheumatologist, or a different branch of medicine altogether?

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4 Replies

  • Posted

    Hi, I would suggest Dr Mark Roberts at the Salford Royal. A neuromuscular specialist such as him is ideal, then a neurologist or a rheumatologist in that order, possibly a geneticist. You might like to consider McArdle Disease. Look up the web site for IamGSD and the section on McArdle's (GSD5) has a page "Could my problems be due to McArdle's?". If you have a good match to the symptoms and history and a raised Creatine Kinase (CK) your GP could do the first step of genetic testing through the McArdle Disease service.

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    • Posted

      Hi Andrew, thanks for taking the time to reply. I found the website and also the consultant you mentioned above. I will try to get a referral to the clinic in Salford.

      In the context of glycogen storage diseases they talk a lot about something they label 'second wind'. It is something I do not experience.

      What I find puzzling is that most of these muscle disorders seem to be congenital whereas I am in my fifth decade. The onset is also rather quick. Half a year ago I was playing three sets of tennis whereas now I am struggling with walking, lifting things, and climbing stairs.

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    • Posted

      Hi Sam. The particular pattern of second wind in the McArdle's Is reported to be unique to that condition, but there may be other patterns of second wind in other conditions. I would not rule out all muscle GSDs at this stage. Achieving diagnosis in the fifth decade is quite common, but usually people will have been aware of symptoms for a many years beforehand rather than having your very quick onset. However, you might like to try reading about "late onset" Pompe disease (GSD2) on the AGSD-UK website. There is a genetic testing centre for Pompe at the Manchester Children's Hospital, they also test adults. Just another possibility. You would need to be referred by someone like Dr Mark Roberts.

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  • Posted

    It will depend on your finances, if you have health insurance or you are able to pay privately you can see whoever you want, if however you are reliant on NHS then it will be down to who your GP considers the best one for the job if any.

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