Body composition and 6 minute walking ability in late-onset pompe disease patients after 9 years of enzyme replacement therapy
| Autor: | Gerasimos Terzis, Eleni Kontou, Georgios Papadimas, Constantinos Papadopoulos, Argyro Krase, Ioannis Arnaoutis |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Neuromuscular disease Late onset Walking Disease 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Bone Density Internal medicine medicine Humans Enzyme Replacement Therapy Dual x-ray absorptiometry Glycogen Glycogen Storage Disease Type II business.industry General Neuroscience General Medicine Enzyme replacement therapy Middle Aged medicine.disease 030104 developmental biology Endocrinology chemistry Body Composition Female business 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Neuroscience. 132:699-705 |
| ISSN: | 1543-5245 0020-7454 |
| Popis: | Pompe disease is a rare autosomal recessive disorder caused by the deficiency of acid α-glycosidase resulting in accumulation of glycogen in the lysosomes. The late-onset form of the disease (LOPD) causes primarily progressive muscle weakness and respiratory insufficiency. Enzyme replacement therapy (ERT) introduced in 2006, showed mild improvement or stabilization of the symptoms although long-term data are limited. Aim of the study was to describe the progression of body composition and walking ability in LOPD patients receiving ERT consistently for 9 years.Lean body mass, bone mineral density, body fat and 6 min walking distance were assessed in three male and three female LOPD patients (height 165.8 ± 11.2 cm, age 42.3 ± 11.8yrs, body mass 71.1 ± 20.8 kg, at study entry), every three years, for 9 years since ERT initiation (T0, T3, T6, T9).Total body and upper extremities' lean mass remained unchanged (The current data show that enzyme replacement therapy may preserve lean body mass, bone mineral density and walking capacity in LOPD patients. |
| Databáze: | OpenAIRE |
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