Muscles Affected in Pompe Disease
Limb-Girdle and Axil Muscle Weakness
In Pompe Patients’ Words
- "In my 30s, I found it difficult to climb stairs without holding the handrail."
- "At 20, I needed to use the armrest to help get up from the chair."
- "As a child, I couldn't hold my head up while my father lifted me over a fence."
- "I started to limp when I turned 40."
Faculty
Tahseen Mozaffar, MD, is a neurologist and professor at the University of California, Irvine. Jordi Diaz Manera, MD PhD, is a neurologist and professor at Newcastle University in UK.
Dr. Mozaffar and Dr. Diaz Manera are available for Q&A by teleconference or email. Please note that faculty will only provide educational and informational input in response to your questions.
Please email info@p2psyncro.com to schedule. This is provided at no cost.
Prevalence of Pompe in Neuromuscular Clinic
Pompe disease has infantile onset form (IOPD) and the more common late onset form (LOPD).
LOPD occurs in both children and adult. The average age of onset is 29 years. In a prospective study of 921 patients presenting to a neuromuscular practice for proximal muscle weakness, high creatinine kinase, or neck flexor weakness, 1% were found to have LOPD (Wencel. Neurol Genet. 2021;7:e623). Similar findings from patients in Europe were reported.
Clues for Pompe in Limb-Girdle Muscle Weakness
Takeaways from faculty discussion on limb-girdle muscle weakness and Pompe disease are provided below.
Question
When we see a patient with limb girdle pattern of muscle weakness, what are the diagnostic clues that will make us lean or direct the workup towards Pompe disease
Discussion
- Muscles affected:
- In Pompe disease, gluteal muscle is always affected, along with psoas muscle. Posterior muscles of the thighs are more affected than the quadriceps. Quadriceps tend to be fine until late in the disease. Distal muscles in the lower limbs are spared in Pompe. If we see an atrophy of the gastrocnemius of the calves, this is probably not Pompe. Axial involvement is very typical in Pompe. Patients can have difficulties to extend the trunk when lying flat in the bed. Infraspinatus muscle weakness is also common, even in the absence of scapular winging.
- Respiratory insufficiency:
- Majority of Pompe patients have respiratory insufficiency. If we see a combination of respiratory insufficiency and gluteal muscle weakness, we always need to think Pompe disease.
- Other abnormalities:
- There is a 22% risk of developing cranial or other body vascular abnormalities in Pompe disease. If a patient has a history of aneurysms or vascular dilatation together with other typical features, we should think Pompe.
- EMG:
- It can be helpful, especially when we explore the paraspinal muscle and we see myotonic features. This is very suggestive but not specific as it can also be seen in many other muscular diseases such as myotonic dystrophy.
POMPE DISEASE CENTERS
The list below shows the labs in the US that conduct genetic testing of Pompe disease. Please note that this list may not include all available labs.
- Duke University Health System: https://testcatalog.duke.edu/
- Greenwood Genetic Center: www.ggc.org
- INVITAE: https://www.invitae.com/en/sponsored-testing/detect-mdys
- LabCorp/Integrated Genetics: www.integratedgenetics.com
- The Lantern Project: http://www.lanternprojectdx.com/
- Mayo Medical Libratories: http://www.mayomedicallaboratories.com/
- Seattle Children’s Hospital: https://seattlechildrenslab.testcatalog.org/
- Sema4: http://www.sema4.com/
Faculty
Tahseen Mozaffar, MD, is a neurologist and professor at the University of California, Irvine. Jordi Diaz Manera, MD PhD, is a neurologist and professor at Newcastle University in UK.
Dr. Mozaffar and Dr. Diaz Manera are available for Q&A by teleconference or email. Please note that faculty will only provide educational and informational input in response to your questions.
Please email info@p2psyncro.com to schedule. This is provided at no cost.
Prevalence of Pompe in Neuromuscular Clinic
Pompe disease has infantile onset form (IOPD) and the more common late onset form (LOPD).
LOPD occurs in both children and adult. The average age of onset is 29 years. In a prospective study of 921 patients presenting to a neuromuscular practice for proximal muscle weakness, high creatinine kinase, or neck flexor weakness, 1% were found to have LOPD (Wencel. Neurol Genet. 2021;7:e623). Similar findings from patients in Europe were reported.
Clues for Pompe in Limb-Girdle Muscle Weakness
Takeaways from faculty discussion on limb-girdle muscle weakness and Pompe disease are provided below.
Question
When we see a patient with limb girdle pattern of muscle weakness, what are the diagnostic clues that will make us lean or direct the workup towards Pompe disease
Discussion
- Muscles affected:
- In Pompe disease, gluteal muscle is always affected, along with psoas muscle. Posterior muscles of the thighs are more affected than the quadriceps. Quadriceps tend to be fine until late in the disease. Distal muscles in the lower limbs are spared in Pompe. If we see an atrophy of the gastrocnemius of the calves, this is probably not Pompe. Axial involvement is very typical in Pompe. Patients can have difficulties to extend the trunk when lying flat in the bed. Infraspinatus muscle weakness is also common, even in the absence of scapular winging.
- Respiratory insufficiency:
- Majority of Pompe patients have respiratory insufficiency. If we see a combination of respiratory insufficiency and gluteal muscle weakness, we always need to think Pompe disease.
- Other abnormalities:
- There is a 22% risk of developing cranial or other body vascular abnormalities in Pompe disease. If a patient has a history of aneurysms or vascular dilatation together with other typical features, we should think Pompe.
- EMG:
- It can be helpful, especially when we explore the paraspinal muscle and we see myotonic features. This is very suggestive but not specific as it can also be seen in many other muscular diseases such as myotonic dystrophy.
POMPE DISEASE CENTERS
The list below shows the labs in the US that conduct genetic testing of Pompe disease. Please note that this list may not include all available labs.
- Duke University Health System: https://testcatalog.duke.edu/
- Greenwood Genetic Center: www.ggc.org
- INVITAE: https://www.invitae.com/en/sponsored-testing/detect-mdys
- LabCorp/Integrated Genetics: www.integratedgenetics.com
- The Lantern Project: http://www.lanternprojectdx.com/
- Mayo Medical Libratories: http://www.mayomedicallaboratories.com/
- Seattle Children’s Hospital: https://seattlechildrenslab.testcatalog.org/
- Sema4: http://www.sema4.com/