Overview
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome is a very rare inherited brain and nervous system disorder that begins in infancy or early childhood. It is sometimes referred to by the abbreviation EOPSCA-DSMA. This condition affects multiple parts of the nervous system at the same time, which leads to a combination of symptoms that can be challenging to manage. The disease causes the brain to progressively lose function over time (encephalopathy), meaning children may experience intellectual disability and developmental delays. It also causes spastic ataxia, which means the muscles become stiff and movement becomes uncoordinated and unsteady. In addition, the condition affects the nerves that control the muscles in the hands and feet (distal spinal muscular atrophy), leading to weakness and wasting of the muscles furthest from the body's center. Currently, there is no cure for this condition. Treatment focuses on managing symptoms, supporting development, and improving quality of life. This includes physical therapy, occupational therapy, speech therapy, and medications to help with muscle stiffness or seizures if they occur. Because this disease is so rare, care is typically coordinated by a team of specialists with experience in rare neurological conditions.
Also known as:
Key symptoms:
Progressive intellectual disability and cognitive declineUnsteady, poorly coordinated movements (ataxia)Stiff, tight muscles (spasticity)Muscle weakness in the hands and feetMuscle wasting (shrinking) in the lower arms and legsDelayed developmental milestones such as sitting, standing, or walkingDifficulty speaking or communicatingSeizures in some individualsAbnormal reflexesDifficulty with fine motor tasks like writing or buttoning clothes
Clinical phenotype terms (24)— 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 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy 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 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy 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 specific changes were found in the TBCK gene, and what do they mean for my child's prognosis?,What therapies should we start right away, and how often should my child receive them?,Are there any clinical trials or research studies that my child might be eligible for?,What signs should prompt me to seek emergency care?,How will we monitor my child's progression over time, and what tests will be needed?,Are other family members at risk, and should they be tested?,What support services and educational resources are available for my child and our family?
Common questions about Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
What is Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome?
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome is a very rare inherited brain and nervous system disorder that begins in infancy or early childhood. It is sometimes referred to by the abbreviation EOPSCA-DSMA. This condition affects multiple parts of the nervous system at the same time, which leads to a combination of symptoms that can be challenging to manage. The disease causes the brain to progressively lose function over time (encephalopathy), meaning children may experience intellectual disability and developmental delays. It also causes spa
How is Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome inherited?
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome typically begin?
Typical onset of Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome is infantile. Age of onset can vary across affected individuals.