Salla Disease: Signs, Causes, And How To Treat

Written by Medicover Team and Medically Reviewed by Dr Krishna Haskar Dhanyamraju , Neurologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Salla disease is a rare inherited lysosomal storage disorder that affects the transport of free sialic acid out of lysosomes. It belongs to the group of free sialic acid storage diseases and primarily affects the nervous system. The condition is caused by mutations in the SLC17A5 gene, resulting in the accumulation of sialic acid within cells.

Symptoms usually begin during infancy or early childhood and include developmental delays, muscle weakness, movement disorders, and intellectual disability. Although there is currently no cure, early supportive care and rehabilitation can improve quality of life and functional independence.

What Are the Types of Salla Disease?

Free sialic acid storage diseases include different forms based on severity.

Salla disease (classic form): A milder form with gradual neurological progression and survival into adulthood.
Infantile free sialic acid storage disease (ISSD): A severe form presenting during infancy with significant neurological impairment and multiple organ involvement.

What Are the Symptoms of Salla Disease?

Symptoms usually become noticeable during infancy or early childhood and progress gradually over time.

Developmental delay
Delayed speech and language development
Intellectual disability
Progressive muscle weakness
Low muscle tone (hypotonia)
Movement disorders, including ataxia and poor coordination
Seizures in some individuals
Spasticity as the disease progresses
Difficulty walking
Tremors

What Causes Salla Disease?

Salla disease is caused by inherited mutations that impair the transport of sialic acid from lysosomes, resulting in its accumulation within cells.

Mutations in the SLC17A5 gene
Defective lysosomal transport of free sialic acid
Autosomal recessive inheritance
Inheritance of one altered gene from each parent

When to See a Doctor for Salla Disease?

Medical evaluation is recommended if a child has delayed developmental milestones, poor muscle tone, progressive movement problems, speech delay, seizures, or a family history of Salla disease or other inherited metabolic disorders. Early diagnosis allows timely supportive treatment and genetic counseling.

Consult a healthcare provider if you notice:

Delayed sitting, standing, or walking
Speech delay
Poor coordination or frequent falls
Muscle weakness or stiffness
Seizures or abnormal movements

Early evaluation by a neurologist or metabolic specialist can improve long-term care and rehabilitation planning.

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How Is Salla Disease Diagnosed?

Diagnosis combines clinical findings with biochemical and genetic testing.

Medical and family history
Neurological examination
Urine and blood tests showing elevated free sialic acid levels
MRI of the brain
Genetic testing for SLC17A5 mutations
Developmental assessment

How Is Salla Disease Treated?

There is no cure for Salla disease. Treatment focuses on symptom management, rehabilitation, and improving quality of life.

Rehabilitation Therapy

Physical therapy to improve mobility and muscle strength
Occupational therapy for daily living skills
Speech and language therapy

Medical Management

Antiepileptic medications for seizures
Medications to manage muscle stiffness or spasticity
Nutritional support when feeding difficulties occur

Supportive Care

Developmental and educational support
Regular neurological follow-up
Genetic counseling for affected families
Psychological and social support

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What Are the Risk Factors for Salla Disease?

The primary risk factors are related to inherited genetic mutations.

Family history of Salla disease
Parents who both carry an SLC17A5 mutation
Autosomal recessive inheritance
Higher prevalence in individuals of Finnish ancestry

What Are the Complications of Salla Disease?

Progressive neurological impairment can lead to long-term complications.

Progressive motor disability
Walking difficulties
Speech impairment
Learning disabilities
Seizures
Muscle stiffness and spasticity
Reduced independence in daily activities

Living With Salla Disease

Living with Salla disease requires lifelong multidisciplinary care involving neurologists, rehabilitation specialists, geneticists, therapists, and primary care providers. Regular therapy, educational support, seizure management, and family support services can help maximize function, maintain independence, and improve overall quality of life.

Frequently Asked Questions

1. What is Salla Disease?

Salla Disease is a rare genetic disorder that affects the metabolism of sialic acid, leading to neurological symptoms such as developmental delay and intellectual disability.

2. What are the symptoms of Salla Disease?

Symptoms of Salla Disease can include muscle weakness, difficulty walking, speech problems, and in some cases, seizures.

3. How is Salla Disease diagnosed?

Salla Disease can be diagnosed through genetic testing to identify mutations in the SLC17A5 gene which causes the condition.

4. Is there a cure for Salla Disease?

Currently, there is no cure for Salla Disease. Treatment focuses on managing symptoms and providing supportive care to improve quality of life.

5. What is the prognosis for individuals with Salla Disease?

The prognosis for individuals with Salla Disease varies depending on the severity of symptoms. Some may have a milder form of the disease while others may experience more severe complications.