Living with Free sialic acid storage disease
An inherited condition that mainly affects the brain and spinal cord, with forms ranging from severe infant onset to a milder form called Salla disease.
Understanding Free sialic acid storage disease
It is often divided into three forms by severity. The severe infant form can show fluid buildup before or soon after birth, severe developmental delays, low muscle tone, slow growth, coarse facial features, an enlarged liver and spleen, an enlarged heart, and seizures. The mildest form, Salla disease, may not show at birth, and often brings intellectual disability, developmental delay, poor coordination, and muscle stiffness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Intellectual disability
- Low muscle tone and poor weight gain in infancy
- Poor coordination (ataxia)
- Muscle stiffness (spasticity)
- Writhing movements (athetosis)
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, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Salla Treatment and Research 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 genes cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Patient organizations
- Salla Treatment and Research FoundationFree sialic acid storage disease · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Free sialic acid storage disease.
Explore research for Free sialic acid storage disease
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