Pompe disease (GSD type II): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Pompe disease (GSD type II): clinical features. Proximal lower limb, Paraspinal, Diaphragm. Fully referenced neurology checklist.
Weakness
- Proximal lower limb
- Paraspinal
- Diaphragm
- Other respiratory muscles
Other neuromuscular features
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Intracranial features
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Skeletal features
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Gastrointestinal features
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Cardiorespiratory features
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Differential diagnosis
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References
- Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology 2008; 71(Suppl 2):S4-S11.
- Kishani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. ACGM Practice guideline 2006; 8:5.
- Toscano A, Rodolico C, Musumeci O. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Ann Transl Med 2019; 7:284.
- Hagemans ML, van Schie SP, Janssens AC, van Doorn PA, Reuser AJ, van der Ploeg AT. Fatigue: an important feature of late-onset Pompe disease. J Neurol 2007; 254:941-945.
- Groen WB, Leen WG, Vos AMC, Cruysberg JRM, van Doorn PA, van Engelen BGM. Ptosis as a feature of late-onset glycogenosis type II. Neurology 2006; 67:2261-2262.
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