Living with Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
A rare genetic condition that starts in infancy with loss of skills, movement problems, and sometimes kidney disease.
Understanding Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
It leads to severe intellectual disability, poor balance and coordination, mild involuntary movements, low muscle tone in the trunk, a bent-forward posture, and trouble moving the eyes on command (oculomotor apraxia). Some people also develop kidney disease, high blood pressure, and a tendency toward high potassium.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays and loss of developmental skills
- Small head size (microcephaly)
- Involuntary movements (dystonia, choreoathetosis)
- Feeding difficulties and slow growth
- Drooping eyelid and crossed eyes
- High blood pressure
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 brain and nervous system specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in SLC30A9 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 National Kidney Foundation 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 SLC30A9 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: bilapes; birk-landau-perez syndrome; cerebrorenal syndrome, perez type
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
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Perspectives from people navigating life with Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome.
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