Living with Pseudo-Hurler polydystrophy
A rare genetic condition, also called mucolipidosis III alpha/beta, with slow growth, stiff joints, and bone problems.
Understanding Pseudo-Hurler polydystrophy
Signs usually start around age 3 and slowly worsen. Children grow slowly and have short stature, stiff joints, and skeletal differences on X-ray. Many develop weak, thin bones and bone pain that increases over time. Heart valve differences, mild clouding of the eye surface, and frequent ear and breathing infections can occur. About half have mild intellectual disability or learning problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth and short stature
- Stiff joints
- Bone changes seen on X-ray (dysostosis multiplex)
- Claw-hand deformity
- Slightly coarse facial features
- Heart muscle disease (cardiomyopathy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in GNPTAB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The International Advocates for Glycoprotein Storage Diseases (ISMRD) may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: The International Advocates for Glycoprotein Storage Diseases (ISMRD)
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cure Mucolipidosis and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the GNPTAB gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ml 3 alpha/beta; ml iii; ml iii alpha/beta; ml iiia; mliii; mucolipidosis iii
Patient organizations
- Cure MucolipidosisPseudo-Hurler polydystrophy · United States
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Pseudo-Hurler polydystrophy · United States
- International Society for Mannosidosis and Related DiseasesPseudo-Hurler polydystrophy · National MPS Society
You are more than your diagnosis
Perspectives from people navigating life with Pseudo-Hurler polydystrophy.
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