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. 2010 Sep;47(3):643-9.
doi: 10.1016/j.bone.2010.06.021. Epub 2010 Jun 25.

Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density

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Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density

Linda E M van den Berg et al. Bone. 2010 Sep.

Abstract

Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase. The introduction of enzyme replacement therapy as treatment for the disease may change prospects for patients and may require that more attention be paid to co-morbidities such as osteoporosis.

Methods: Bone mineral status was assessed in children and adults with Pompe disease and compared with reference values by means of dual energy X-ray absorptiometry (DXA) technology (GE Lunar DPX, GE Health Care). Bone mineral density (BMD) of the total body and the lumbar spine (L2-L4) was measured in adults and children; BMD of the femoral neck was measured in adults only. Exclusion criteria were: age<4 years, severe contractures, and inability to transfer the patient.

Results: 46 patients were enrolled in the study; 36 adults and 10 children. The BMD was significantly lower in Pompe patients than in healthy individuals. Sixty-seven percent of patients had a BMD Z-score below -1, 26% were classified as osteoporosis/low bone mass for chronological age (T-score<-2.5 in adults or Z-score<-2 in children), 66% had a BMD Z-score below -1 of the femoral neck, and 34% had a BMD Z-score below -1 for the lumbar spine. Osteoporosis/low bone mass for chronological age was more frequent in patients who were wheelchair-bound, but was also observed in ambulant patients. We found a significant correlation between proximal muscle strength and total body BMD. Of the 10 children, 8 (all four patients with the classic infantile form) had a low BMD.

Conclusion: Low BMD is a frequent finding in patients with Pompe disease and may be causally related to decreased proximal muscle strength. BMD should be monitored at regular intervals. Children deserve specific attention.

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Comment in

  • Bone mineral density in adult patients with Pompe disease.
    Papadimas GK, Terzis G, Spengos K, Methenitis S, Papadopoulos C, Vassilopoulou S, Manta P. Papadimas GK, et al. Bone. 2011 Feb;48(2):417; author reply 418-9. doi: 10.1016/j.bone.2010.09.030. Epub 2010 Sep 25. Bone. 2011. PMID: 20884384 No abstract available.

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