Overview
Spastic paraplegia-optic atrophy-neuropathy syndrome (also known as SPOAN syndrome) is a very rare inherited neurological condition that affects the nervous system in multiple ways. The disease causes progressive stiffness and weakness in the legs (spastic paraplegia), gradual loss of vision due to damage to the optic nerves (optic atrophy), and damage to the peripheral nerves that connect the brain and spinal cord to the rest of the body (peripheral neuropathy). Symptoms typically begin in early childhood and worsen over time. People with this condition usually develop difficulty walking due to increasing leg stiffness and weakness. Vision problems may start early and can progress to significant visual impairment. The peripheral neuropathy can cause numbness, tingling, or pain in the hands and feet, as well as muscle wasting in the limbs. Some individuals may also experience problems with bladder control and other neurological symptoms. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, and assistive devices can help with mobility. Low-vision aids and rehabilitation services may support those with visual impairment. Medications may be used to manage spasticity and neuropathic pain. Research is ongoing to better understand the disease and develop more targeted treatments.
Also known as:
Key symptoms:
Progressive leg stiffness and difficulty walkingVision loss due to optic nerve damageNumbness or tingling in hands and feetMuscle weakness in the legsMuscle wasting in the limbsDifficulty with balance and coordinationExaggerated reflexes in the legsJoint contractures (tightening of joints)Bladder control problemsFoot deformities such as high arches or curled toesStartling response to sounds (exaggerated startle reflex)Difficulty with fine motor tasksBack pain or spinal curvature
Clinical phenotype terms (20)— hover any for plain English
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 Spastic paraplegia-optic atrophy-neuropathy syndrome.
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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 Spastic paraplegia-optic atrophy-neuropathy syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 is the expected rate of progression for my child's symptoms?,What therapies are most important to start right away?,Are there any clinical trials or research studies we could participate in?,How often should we have eye exams and neurological evaluations?,What medications can help with spasticity and nerve pain, and what are the side effects?,Should other family members be tested for the KLC2 gene mutation?,What resources are available for school accommodations and assistive technology?
Common questions about Spastic paraplegia-optic atrophy-neuropathy syndrome
What is Spastic paraplegia-optic atrophy-neuropathy syndrome?
Spastic paraplegia-optic atrophy-neuropathy syndrome (also known as SPOAN syndrome) is a very rare inherited neurological condition that affects the nervous system in multiple ways. The disease causes progressive stiffness and weakness in the legs (spastic paraplegia), gradual loss of vision due to damage to the optic nerves (optic atrophy), and damage to the peripheral nerves that connect the brain and spinal cord to the rest of the body (peripheral neuropathy). Symptoms typically begin in early childhood and worsen over time. People with this condition usually develop difficulty walking due
How is Spastic paraplegia-optic atrophy-neuropathy syndrome inherited?
Spastic paraplegia-optic atrophy-neuropathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spastic paraplegia-optic atrophy-neuropathy syndrome typically begin?
Typical onset of Spastic paraplegia-optic atrophy-neuropathy syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat Spastic paraplegia-optic atrophy-neuropathy syndrome?
1 specialists and care centers treating Spastic paraplegia-optic atrophy-neuropathy syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.