Overview
Spinal atrophy-ophthalmoplegia-pyramidal syndrome is an extremely rare neurological condition that combines three main features: spinal muscular atrophy (wasting and weakness of muscles due to nerve cell loss in the spinal cord), ophthalmoplegia (weakness or paralysis of the eye muscles that control eye movement), and pyramidal signs (problems with the nerve pathways that control voluntary movement, leading to stiffness, exaggerated reflexes, and difficulty with coordinated movement). This syndrome falls under the broader category of motor neuron diseases, which are conditions where the nerve cells that control muscles gradually break down and die. Patients with this condition typically experience progressive muscle weakness that can affect the arms and legs, difficulty moving the eyes in various directions, and signs of upper motor neuron involvement such as increased muscle tone and brisk reflexes. The combination of both lower motor neuron signs (muscle wasting and weakness) and upper motor neuron signs (spasticity and hyperreflexia) along with eye movement problems makes this syndrome distinctive. Because this condition is so rare, there is very limited information about its full natural history. There are no specific approved treatments that target the underlying cause. Management is primarily supportive and symptomatic, focusing on physical therapy, occupational therapy, and addressing complications as they arise. A multidisciplinary team of specialists is typically needed to manage the various aspects of this complex condition.
Also known as:
Key symptoms:
Progressive muscle weakness in the arms and legsMuscle wasting (muscles becoming thinner over time)Difficulty moving the eyes or paralysis of eye musclesDouble visionMuscle stiffness or spasticityExaggerated reflexesDifficulty walking or unsteady gaitDrooping eyelidsDifficulty with fine motor tasks like writing or buttoning clothesMuscle twitching or fasciculationsDifficulty swallowing in some casesFatigue
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Spinal atrophy-ophthalmoplegia-pyramidal syndrome.
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Specialists
View all specialists →No specialists are currently listed for Spinal atrophy-ophthalmoplegia-pyramidal syndrome.
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 Spinal atrophy-ophthalmoplegia-pyramidal 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
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 is the expected rate of progression for my specific case?,Are there any genetic tests that could help identify the exact cause of my condition?,What therapies or exercises can help me maintain my strength and mobility for as long as possible?,How often should I have my breathing and swallowing function checked?,Are there any clinical trials or research studies I might be eligible for?,What medications can help manage my spasticity or other symptoms?,Should my family members be tested for this condition?
Common questions about Spinal atrophy-ophthalmoplegia-pyramidal syndrome
What is Spinal atrophy-ophthalmoplegia-pyramidal syndrome?
Spinal atrophy-ophthalmoplegia-pyramidal syndrome is an extremely rare neurological condition that combines three main features: spinal muscular atrophy (wasting and weakness of muscles due to nerve cell loss in the spinal cord), ophthalmoplegia (weakness or paralysis of the eye muscles that control eye movement), and pyramidal signs (problems with the nerve pathways that control voluntary movement, leading to stiffness, exaggerated reflexes, and difficulty with coordinated movement). This syndrome falls under the broader category of motor neuron diseases, which are conditions where the nerve