Living with Marinesco-Sjögren syndrome
An inherited condition with childhood cataracts, muscle weakness, poor coordination, and learning difficulties.
Understanding Marinesco-Sjögren syndrome
People have cataracts (clouding of the eye lens) soon after birth or in early childhood. They also have muscle weakness and poor coordination (ataxia), which may make walking harder. Most have mild to moderate intellectual disability, short stature, and scoliosis. Puberty may be delayed or absent.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts (clouded eye lenses)
- Poor coordination (ataxia)
- Muscle weakness
- Intellectual disability and delayed development
- Slurred speech (dysarthria)
- Crossed eyes (strabismus)
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 and genetic specialists.
- 3Consider genetic testing
Changes in SIL1 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
National Ataxia Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation, The Foundation for Peripheral Neuropathy
- 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 Ataxia 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
Changes in the SIL1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: garland-moorhouse syndrome; hereditary oligophrenic cerebello-lental degeneration; marinesco-garland syndrome; marinesco-sjogren syndrome; marinesco-sjã¶gren syndrome; marshall smith syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Marinesco-Sjögren syndrome.
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