Overview
Intermediate severe Salla disease is a rare inherited condition that belongs to a group of disorders called free sialic acid storage diseases. It is caused by problems with a protein that normally transports a sugar molecule called sialic acid (also known as free sialic acid) out of a part of the cell called the lysosome. When this transport does not work properly, sialic acid builds up inside cells throughout the body, causing progressive damage to the brain and nervous system. This form falls between the milder classic Salla disease and the most severe form known as infantile free sialic acid storage disease (ISSD). Children with intermediate severe Salla disease typically show developmental delays and intellectual disability that are more pronounced than in classic Salla disease but less rapidly progressive than in ISSD. Common symptoms include delayed motor milestones, difficulty with coordination and balance (ataxia), speech problems, muscle stiffness (spasticity), and seizures. Some children may also have coarsened facial features and enlarged liver or spleen. There is currently no cure for intermediate severe Salla disease. Treatment focuses on managing symptoms and supporting the child's development through physical therapy, occupational therapy, speech therapy, and medications to control seizures. Research into potential therapies is ongoing, but options remain limited. Early diagnosis and supportive care can help improve quality of life.
Key symptoms:
Delayed motor developmentIntellectual disabilityDifficulty with coordination and balance (ataxia)Muscle stiffness or spasticitySeizuresSpeech and language delaysDifficulty walking or inability to walk independentlyInvoluntary eye movements (nystagmus)Coarsened facial featuresEnlarged liver or spleenShort statureProgressive loss of previously learned skillsFeeding difficulties
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intermediate severe Salla disease.
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Specialists
View all specialists →No specialists are currently listed for Intermediate severe Salla disease.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Intermediate severe Salla disease.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific mutations were found in my child's SLC17A5 gene, and what does that mean for the expected disease course?,What therapies should we start right away to support my child's development?,How should we manage seizures, and what emergency plan should we have at home?,Are there any clinical trials or research studies my child might be eligible for?,How often should brain MRI and other monitoring tests be done?,Should other family members be tested for carrier status?,What support services and resources are available for our family?
Common questions about Intermediate severe Salla disease
What is Intermediate severe Salla disease?
Intermediate severe Salla disease is a rare inherited condition that belongs to a group of disorders called free sialic acid storage diseases. It is caused by problems with a protein that normally transports a sugar molecule called sialic acid (also known as free sialic acid) out of a part of the cell called the lysosome. When this transport does not work properly, sialic acid builds up inside cells throughout the body, causing progressive damage to the brain and nervous system. This form falls between the milder classic Salla disease and the most severe form known as infantile free sialic ac
How is Intermediate severe Salla disease inherited?
Intermediate severe Salla disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intermediate severe Salla disease typically begin?
Typical onset of Intermediate severe Salla disease is infantile. Age of onset can vary across affected individuals.