Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
Journal
Orphanet Journal of Rare Diseases
Journal Volume
11
Journal Issue
1
Pages
63
Date Issued
2016
Author(s)
Abstract
Background: Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients. However, they still present residual muscle weakness. In the present study, we used longitudinal muscle magnetic resonance imaging (MRI) to determine whether this condition is progressive. Materials and methods: A cohort of classic IOPD patients who were diagnosed through newborn screening were treated with recombinant human acid α-glucosidase (rhGAA) and followed prospectively from birth. The trunk (and abdominal wall), pelvis and upper thighs were scanned for muscle MRI every 2-3 years. Seven groups of muscles were individually scored from 0 to 4 based on the extent of their involvement, and the sum was correlated to the clinical manifestations. Results: Twenty-four MRI scans from a total of 12 neonatally treated IOPD patients were analyzed in the present study. The median age at the time of MRI scanning was 4.2 years (13 days to 9 years). High intensity over the quadriceps on T2-weighted and short-tau inversion recovery images was observed in all scans and was followed by a decrease in muscle mass. Trunk muscle involvement was slower, except in one patient who exhibited progressive psoas atrophy. Among the 10 patients for whom follow-up scans were repeated more than 2 years after the first scan, four patients (40 %) showed increased myopathy severity. Conclusion: This prospective muscle MRI study provides evidence for the occurrence of slow, progressive muscle damage in neonatally treated IOPD patients during childhood. New treatment strategies are necessary to improve outcomes in these patients. ? 2016 Peng et al.
SDGs
Other Subjects
creatine kinase; glucan 1,4 alpha glucosidase; recombinant glucan 1,4 alpha glucosidase; Article; child; clinical article; cohort analysis; controlled study; creatine kinase blood level; disease course; disease severity; enzyme replacement; erector spinae muscle; female; gluteus maximus muscle; glycogen storage disease type 2; human; infantile onset Pompe disease; inferior oblique muscle; male; muscle atrophy; muscle biopsy; muscle mass; muscle weakness; myopathy; newborn; newborn screening; nuclear magnetic resonance imaging; onset age; psoas muscle; quadriceps femoris muscle; rectus abdominis muscle; rectus femoris muscle; skeletal muscle; susceptibility weighted imaging; vastus lateralis muscle; vastus medialis muscle; complication; diagnostic imaging; glycogen storage disease type 2; infant; muscle disease; preschool child; Child; Child, Preschool; Glycogen Storage Disease Type II; Humans; Infant; Infant, Newborn; Muscle, Skeletal; Muscular Diseases
Type
journal article