GSD 2, also known as Pompe disease, is a rare condition that can cause symptoms that are difficult to explain and may resemble other illnesses.
GSD 2 is a condition that you are born with. You may have noticed subtle differences from others throughout your life, such as difficulty running, trouble getting up from a chair or the floor, morning headaches, and constant fatigue. These symptoms can worsen at any point in your life, but because you have lived with them for so long, you may not have even realised they were changing.
If you experience any of the symptoms listed below, consider asking your doctor for a GSD 2 test. This test is quick and easy, taking only a few minutes, and can provide you with a better understanding of whether you may have GSD 2. You may not have all of the symptoms mentioned, but the more you have, the more important it is to get tested for GSD 2.
Use the grid below as a symptoms checker and tick the symptoms that you have.
| Pompe Symptoms | Tick |
| Head and shoulders | |
| Muscle weakness in eyes | |
| Dropped eye lids | |
| Morning headaches | |
| Sleep apnoea | |
| Difficulty swallowing | |
| Difficulty clearing airway after eating | |
| Weak cough | |
| Difficulty clearing throat | |
| Speaking voice changing in volume and/or texture | |
| Impaired alertness | |
| Arms and hands | |
| Arms feeling very heavy | |
| Difficulty lifting objects | |
| Weak grip | |
| Body | |
| Protruding stomach | |
| Muscle weakness in mid section | |
| Bowel issues | |
| Difficulty bending and straightening | |
| Bladder frequency/leakage | |
| Hips and legs | |
| Difficulty getting up from a seated position | |
| Muscle cramps | |
| Difficulty bending and straightening | |
| Difficulty climbing stairs | |
| Weaker front thigh muscles | |
| Unsteady when standing for longer periods | |
| Waddling gait | |
| Struggling to walk | |
| Thicker calf muscles | |
| Tightness in calf muscles | |
| Pain when standing for short/long periods | |
| Unsteadiness when turning round | |
| Difficulty lifting foot | |
| Dropped foot, sometimes feels heavy/sags | |
| General well being | |
| Feeling tired | |
| Feeling hot/cold – temperature regulation | |
| Tremors, feeling shaky | |
| Limbs feeling heavy | |
| Feeling exhausted | |
| Test results | |
| Low oxygen levels | |
| Raised CO2 levels | |
| Raised kinase levels |
Pompe Disease 