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- W2976475251 abstract "Pompe disease is a metabolic myopathy, caused by deficiency of acid alpha-glucosidase. A complete deficiency results in the severe classic infantile phenotype. Without treatment these patients die before one year of age. Enzyme replacement therapy (ERT) with alglucosidase alfa, has significantly improved survival, and many patients now achieve important motor skills such as standing and walking. However, despite treatment, patients still exhibit muscle weakness, which is not limited to the proximal muscles, but also affects the distal muscles of hands and feet. As yet, it is unclear when and how often distal weakness occurs, and what the consequences are. This study is part of a prospective single-center study on the effects of ERT in classic-infantile Pompe disease. Comprehensive examination of motor function was conducted every 3 months and recorded on video. Motor function was independently assessed by three reviewers using these recordings. We included sixteen patients who had learned to walk (median age 1.4 years). Median age at study end was 5.6 years (2.9-18.2). While nine patients (56%) achieved the ability to stand up without any signs of proximal weakness, only six patients (38%) achieved a normal walking pattern without dorsiflexor weakness of the feet, four of whom lost this ability during follow up. Proximal weakness of lower extremities was always preceded by dorsiflexor weakness of the feet. Weakness of upper extremities was less prevalent and occurred later compared to weakness of lower extremities. Five patients developed distal muscle weakness of upper extremities, exhibited by loss of pincer grasp. This study in ERT treated classic infantile Pompe patients shows that distal muscle weakness of lower extremities, resulting in an impaired walking pattern, occurs frequently and prior to both proximal weakness of lower extremities and weakness of upper extremities. The etiology of this new phenotype is unclear, necessitating further investigation." @default.
- W2976475251 created "2019-10-03" @default.
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- W2976475251 date "2019-10-01" @default.
- W2976475251 modified "2023-09-25" @default.
- W2976475251 title "P.71The emerging phenotype in long-term enzyme-treated classic infantile Pompe patients: severe distal muscle weakness" @default.
- W2976475251 doi "https://doi.org/10.1016/j.nmd.2019.06.100" @default.
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