TY - JOUR
T1 - Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region
T2 - Consensus recommendations from an expert group
AU - The MENA Pompe Working Group
AU - Al Jasmi, Fatma
AU - Al Jumah, Mohammed
AU - Alqarni, Fatimah
AU - Al-Sanna'a, Nouriya
AU - Al-Sharif, Fawziah
AU - Bohlega, Saeed
AU - Cupler, Edward J.
AU - Fathalla, Waseem
AU - Hamdan, Mohamed A.
AU - Makhseed, Nawal
AU - Nafissi, Shahriar
AU - Nilipour, Yalda
AU - Selim, Laila
AU - Shembesh, Nuri
AU - Sunbul, Rawda
AU - Tonekaboni, Seyed Hassan
N1 - Publisher Copyright:
© 2015 Al Jasmi et al.
PY - 2015/10/15
Y1 - 2015/10/15
N2 - Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. Results: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. Conclusions: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.
AB - Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. Results: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. Conclusions: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.
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U2 - 10.1186/s12883-015-0412-3
DO - 10.1186/s12883-015-0412-3
M3 - Letter
C2 - 26471939
AN - SCOPUS:84944892796
SN - 1471-2377
VL - 15
JO - BMC Neurology
JF - BMC Neurology
IS - 1
M1 - 205
ER -