Are there any physios working with adult Pompe Disease

I am a physio working in a new role with the Metabolic Medicine Team at Salford Royal Foundation Trust. I am trying to link together physios from around the UK initially, but I will not object to contacts from anywhere in the world.
To begin with I am concentrating on the patients with Pompe Disease, but will also be working with the other GSDs, MPS, Gauchers and other metabolic patients.
If you are working with this group of patients and would like to share in the development of an exciting new area of expertise then please get in touch.

Hi Jane,

I was not aware of this one so I thought I'd put a brief introduction about this disease to add to this post. It came from: About Pompe Disease

About Pompe Disease

Pompe disease is a rare and debilitating muscle disease affecting both children and adults. The infantile-onset form of the disease generally manifests within a few months of birth while the late-onset form appears anytime during childhood or adulthood in a more gradual fashion. Both types are generally characterised by progressive muscle weakness and breathing difficulty, but the severity of the disease can vary widely depending on the age of onset and the extent of organ involvement. In the infantile-onset form, patients typically display a markedly enlarged heart.

The Cause

People born with Pompe disease have an inherited deficiency of an enzyme known as acid alpha-glucosidase (GAA). Enzymes, which are protein-based molecules within cells, trigger biochemical reactions in the body. In a healthy person with normal GAA activity, this particular enzyme would assist in the breakdown of glycogen, a complex sugar molecule stored within a compartment of the cell known as the lysosome. But in Pompe disease, the GAA activity may be dramatically reduced, dysfunctional, or non-existent, resulting in an excessive accumulation of glycogen in the lysosome.

Eventually, the lysosome may become so clogged with glycogen that normal cellular function is disrupted and muscle function is impaired. In later stages of the disease, the lysosomes may even rupture, releasing glycogen into the rest of the cell. Although there is glycogen storage in the cells of multiple tissues, heart and skeletal muscles are usually the most seriously affected.

Jane this sounds a very interesting area of expertise to develop. All the best with getting a group together. I hope in time you will publsih something on the work you are doing

kind regards

Pompe disease which causes muscle weakness. Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.