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Muscular/Rheumatologic

Clinical snapshot

Children with hypophosphatasia (HPP) often have delayed or missed motor milestones.1-3

In a natural history study of patients ≤5 years of age with hypophosphatasia4,a:
89% (24/27) had developmental delays
  • 42% (10/24) had delayed walking

Mobility-related muscular and rheumatologic manifestations have lasting impacts on patients’ lives.1-3,5-7

Defective bone mineralization and impaired regulation of phosphate and calcium may lead to a range of muscular and rheumatologic consequences, including1-3,5,7-11

Muscle and joint pain
Muscle weakness
Joint stiffness and swelling
Delayed or missed motor milestones
Hypotonia
Calcium pyrophosphate dihydrate (CPPD) deposition, which may lead to chondrocalcinosis or pseudogout
Waddling gait

Along with skeletal deformities, muscular and rheumatologic consequences can leave patients with significant disabilities, limiting independence.1,5

aData from a noninterventional, retrospective chart review study designed to understand the natural history of 48 patients with severe perinatal- and infantile-onset hypophosphatasia ≤5 years of age.4

bData from a retrospective, multinational, noninterventional natural history study of childhood hypophosphatasia (N=32).8

cHIPS/HOST combined data from an Internet questionnaire and telephone survey that queried demographics, hypophosphatasia-related illness history, disease progression, and health-related quality of life. One hundred eighty-four patients participated (59 children, 125 adults).6

dHOST was a telephone survey that queried demographics, hypophosphatasia-related illness history, disease progression, and health-related quality of life. Fifty-one patients participated.9

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