PracticeUpdate Conference Series - SSIEM 2018

" A typical phenotype emerged with distal as well as proximal weakness, which differs from patients with nonclassic Pompe disease. The etiology of this new phenotype of muscle weakness is unclear. "

and male patients with infantile Pompe disease. The tonus and elasticity of vastus medialis, and elasticity of gastrocnemius muscles, and hand-held strength were significantly higher in healthy than in patients with infantile Pompe disease (P < .005). Distal muscles of the lower extremities and biceps brachii muscles in patients with infantile Pompe disease were affected less. Dr. Basaran explained that though enzyme replacement therapy is a lifesaving therapy, the effectiveness of muscle function on mobility has not been evaluated in detail. Dr. Basaran concluded that enzyme replacement therapy has extended survival in patientswith infantile Pompe diseasewith respect to cardiomyopathy. Data are sparse, however, on ambulatory patients. The quick motor function test is valid for nonclassic Pompe disease, though few reports in limited numbers of patients with infantile Pompe disease are available.

ƒ ƒ Quick motor function test by myotonometry and MicroFET3 dynamometry of elasticity, bicep, vastus medialis, gastrocnemius, and tibialis anterior muscle tonus and stiffness ƒ ƒ 3-minute stair climb test ƒ ƒ Muscle strength by hand-held dynamometry Of 39 patients, 24 were alive, 2 mechanically ventilated, and 3 younger than 18 months of age. A total of 10 girls and 7 boys began enzyme replacement therapy at 3.5 ± 3.1 months of age. Ages were 57.6 ± 25.9 months, and mean duration of enzyme replacement therapy was 53.2 ± 27.8 months. P.L299P (c.896T>C) was the most common mutation. A significant difference in 6-minute walk test and 10-m walk test was observed between healthy children and those with infantile Pompe disease (P < .005). Six-minute and 10-m walk test were nearly similar for Duchenne muscular dystrophy

www.practiceupdate.com/c/73328

SSIEM 2018 • PRACTICEUPDATE CONFERENCE SERIES 13