Bone density in patients with late onset Pompe disease
George K. Papadimas,Gerassimos Terzis,Constantinos Papadopoulos,Anna Areovimata,Konstantinos Spengos,Stavros A. Kavouras,Panagiota Manta +6 more
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TLDR
It is suggested that regional BMD may moderately reduce in some patients with the late onset form of Pompe disease, although profound osteopenia was not observed and improvement of measurements in L2-L4 and femoral neck BMD z-score in some Patients with low pre-treatment values after ERT administration needs to be confirmed in larger scale studies.Abstract:
Background
Pompe disease is an inherited metabolic disorder characterized by α-glycosidase deficiency, which leads to lysosomal glycogen accumulation in many different tissues. The infantile form is the most severe with a rapidly fatal outcome, while the late onset form has a greater phenotypic variability, characterized by skeletal muscle dysfunction and early respiratory involvement. Bone mineral density (BMD) has been recently reported to be reduced in many patients with both forms of the disease. Enzyme replacement therapy (ERT) is now available with an undefined, impact on BMD in patients with late onset disease.read more
Citations
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Journal ArticleDOI
The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Justin M. Chan,Ankit K. Desai,Zoheb B. Kazi,Kaitlyn Corey,Stephanie Austin,Lisa D. Hobson-Webb,Laura E. Case,Harrison N. Jones,Priya S. Kishnani +8 more
TL;DR: The condition once primarily conceptualized as a limb-girdle muscle disease with prominent respiratory involvement is increasingly recognized to be a condition that results in signs and symptoms across body systems and structures.
Journal ArticleDOI
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Federica Montagnese,Emanuele Barca,Olimpia Musumeci,Stefania Mondello,Alba Migliorato,A. Ciranni,Carmelo Rodolico,P. De Filippi,Cesare Danesino,Antonio Toscano +9 more
TL;DR: This study confirms LOPD clinical and genetic heterogeneity: atypical features may contribute to expand the clinical phenotype highlighting its multi-systemic nature.
Journal ArticleDOI
Neuromuscular Diseases and Bone.
TL;DR: Considering the complexity of care of patients affected by NMDs, an interdisciplinary and multimodal management strategy based on both pharmacological and non-pharmacological interventions is recommended, particularly targeting musculoskeletal issues that are closely related to functional independence as well as social implications.
Journal ArticleDOI
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group
Fatma Al Jasmi,Mohammed Al Jumah,Fatimah Alqarni,Nouriya Al-Sannaa,Fawziah Al-Sharif,Saeed Bohlega,Edward Cupler,Waseem Fathalla,Mohamed Hamdan,Nawal Makhseed,Shahriar Nafissi,Yalda Nilipour,Laila Selim,Nuri Shembesh,Rawda Sunbul,Seyed Hassan Tonekaboni +15 more
TL;DR: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease and indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring.
Journal ArticleDOI
Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease
Francesco Bertoldo,Francesca Zappini,Martina Brigo,Maurizio Moggio,Valeria Lucchini,Corrado Angelini,Claudio Semplicini,Massimiliano Filosto,Sabrina Ravaglia,Sofia Cotelli,Alice Todeschini,Mauro Scarpelli,Serena Pancheri,Paola Tonin +13 more
TL;DR: It is shown for the first time that asymptomatic and atraumatic vertebral fractures occur frequently in late-onset Pompe disease patients without a significant impairment of bone mass.
References
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