Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

Neuromuscular ultrasound as an initial evaluation for suspected myopathy: A case report

“…Muscle ultrasound is a reliable method for detecting clinical and subclinical muscle abnormalities in adult patients with Pompe disease . In the patient described here, the muscles implicated by physical examination had normal EMG findings, while the muscle with abnormal ultrasonographic findings (biceps) had an abnormal EMG and biopsy.…”

“…Ultrasound findings are then used to guide further testing including EMG, muscle biopsy, and enzyme assays. There is conflicting data regarding the utility of muscle ultrasound in Pompe disease, but we contend that it is an appropriate initial diagnostic step that can guide EMG and muscle biopsy in children due to its low risk profile and ease of administration . Early diagnosis of Pompe disease can facilitate improved outcomes, especially if enzyme replacement therapy can be initiated prior to irreversible muscle damage …”

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema‐like changes

“…Only a few studies have examined neuroimaging changes in IOPD and childhood PD. Vill et al recently published a muscle US study of 15 adult and 4 IOPD patients (age at examination, 2–30 months) that showed no distinct pathology even in clinically severely affected children. Therefore, the authors stated that muscle US should not be used as a screening or a routine assessment method for IOPD .…”

“…Vill et al recently published a muscle US study of 15 adult and 4 IOPD patients (age at examination, 2–30 months) that showed no distinct pathology even in clinically severely affected children. Therefore, the authors stated that muscle US should not be used as a screening or a routine assessment method for IOPD . The only muscle MRI evaluation of IOPD was recently reported by Wens et al in 5 patients (ages 3–5 months and not yet treated with ERT) who showed diffuse thigh muscle hypertrophy with no evidence of fatty substitution or edematous changes.…”

“…There is some uncertainty about the etiology of the distinct distribution of weakness in this new PD phenotype . A few radiologic studies have analyzed the lower limb muscles of IOPD patients using muscle US and MRI, and have found them to be normal or hypertrophic.…”