Pompe disease (GSD type II): clinical features
Evidence-based neurology checklist on pompe disease (gsd type ii): clinical features: Neuromuscular features Weakness Exercise intolerance Fatigue Ptosis: in a third of cases Positive Beevor’s sign Macroglossia Fasciculations: case report Intracranial features Skeletal features Gastrointestinal…
Neuromuscular features
- Weakness
- Exercise intolerance
- Fatigue
- Ptosis: in a third of cases
- Positive Beevor’s sign
- Macroglossia
- Fasciculations: case report
Intracranial features
Skeletal features
Gastrointestinal features
Cardiorespiratory features
Differential diagnosis
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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