Overview
Spastic paraplegia-optic atrophy-neuropathy syndrome, sometimes called SPOAN syndrome, is a rare inherited neurological disease that affects the nervous system in several ways at the same time. The name describes its three main features: spastic paraplegia (stiffness and weakness in the legs), optic atrophy (damage to the nerve that carries vision signals from the eye to the brain), and neuropathy (damage to the nerves outside the brain and spinal cord, affecting sensation and movement in the limbs). Together, these problems make it hard to walk, see clearly, and feel normal sensations in the hands and feet. The disease is caused by changes (mutations) in the KIF1C gene, which gives instructions for a protein that helps move important materials inside nerve cells. When this protein does not work properly, nerve cells gradually stop functioning as they should. Symptoms usually begin in childhood or early adulthood and tend to get worse over time. People with this condition may also experience muscle wasting, difficulty with coordination, and in some cases mild intellectual challenges. There is currently no cure for this condition. Treatment focuses on managing symptoms, keeping people as mobile and comfortable as possible, and supporting quality of life. Physical therapy, assistive devices, and regular monitoring by a team of specialists are the main approaches used today.
Also known as:
Key symptoms:
Stiffness and weakness in the legs (spastic paraplegia)Gradual loss of vision due to optic nerve damage (optic atrophy)Numbness, tingling, or weakness in the hands and feet (peripheral neuropathy)Difficulty walking or loss of ability to walk over timeMuscle wasting, especially in the legs and feetPoor coordination and balance problemsReduced or absent reflexes in the legsSensitivity to pain or temperature may be reducedMild intellectual disability in some individualsBladder control problems in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder.
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Specialists
View all specialists →No specialists are currently listed for Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder.
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 and spastic paraplegia-optic atrophy-neuropathy-related disorder.
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.Which specific mutation in the KIF1C gene does my family member have, and what does that mean for how the disease will progress?,Should other family members, including siblings and parents, be tested for this condition?,What therapies or assistive devices would you recommend right now to help maintain mobility as long as possible?,Are there any clinical trials or research studies we could participate in?,How often should vision be checked, and is there anything that can slow the vision loss?,What signs of worsening should prompt us to seek urgent medical attention?,Are there patient registries or support groups for families affected by SPOAN syndrome or hereditary spastic paraplegia?
Common questions about Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
What is Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder?
Spastic paraplegia-optic atrophy-neuropathy syndrome, sometimes called SPOAN syndrome, is a rare inherited neurological disease that affects the nervous system in several ways at the same time. The name describes its three main features: spastic paraplegia (stiffness and weakness in the legs), optic atrophy (damage to the nerve that carries vision signals from the eye to the brain), and neuropathy (damage to the nerves outside the brain and spinal cord, affecting sensation and movement in the limbs). Together, these problems make it hard to walk, see clearly, and feel normal sensations in the
How is Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder inherited?
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 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 and spastic paraplegia-optic atrophy-neuropathy-related disorder typically begin?
Typical onset of Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder is childhood. Age of onset can vary across affected individuals.