Muscular Symptoms of Hypophosphatasia: Waddling Gait, Hypotonia, and More

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Low alkaline phosphatase: The biological hallmark of hypophosphatasia

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 hypophosphatasia^4,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, including^1-3,5,7-11

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

Chart depicting the progressive pain and significant disability caused by hypophosphatasia. Many pediatric patients experience joint pain and muscle weakness that limits daily activities (47%), causes gait disturbance (59%), or requires use of a wheelchair (38%), while 69% of adults report that their walking has gotten worse since being diagnosed with hypophosphatasia.

^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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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 hypophosphatasia^4,a:

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, including^1-3,5,7-11

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

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information about Hypophosphatasia.

Choose an icon to learn more

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:

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

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

Keep Me UpdatedI want to know the latest news and information about Hypophosphatasia.

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 hypophosphatasia^4,a:

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, including^1-3,5,7-11

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

Keep Me Updated
I want to know the latest news and
information about Hypophosphatasia.