Overview
Spinal muscular atrophy associated with central nervous system anomaly is an extremely rare genetic condition that combines two major problems: weakness of the muscles controlled by the spinal cord (spinal muscular atrophy, or SMA) and abnormal development of the brain or spinal cord (central nervous system anomalies). In typical spinal muscular atrophy, the nerve cells in the spinal cord that control movement gradually break down, leading to progressive muscle weakness and wasting. In this particular form, there are additional brain or spinal cord structural problems that can cause intellectual disability, seizures, or other neurological issues beyond what is seen in classic SMA. Babies and young children with this condition usually show severe muscle weakness from birth or early infancy, along with signs of abnormal brain development such as small head size (microcephaly), developmental delays, or brain malformations visible on imaging. Breathing and feeding difficulties are common because the muscles needed for these functions are affected. Because this condition is so rare, there is no specific approved treatment. Management focuses on supportive care, including respiratory support, nutritional assistance, physical therapy, and seizure management if needed. Genetic counseling is important for affected families. Research into the underlying genetic causes is ongoing, and advances in gene therapy for related forms of SMA offer some hope for future treatments.
Also known as:
Key symptoms:
Severe muscle weakness from birthPoor muscle tone (floppy baby)Breathing difficultiesFeeding and swallowing problemsSmall head sizeIntellectual disabilitySeizuresDelayed or absent motor milestonesBrain malformationsReduced or absent reflexesJoint contracturesFailure to thriveAbnormal eye movements
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Spinal muscular atrophy associated with central nervous system anomaly.
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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 Spinal muscular atrophy associated with central nervous system anomaly.
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5 articlesCaregiver 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 genetic testing has been done, and are there additional tests that could help identify the exact cause?,Are any of the approved SMA treatments potentially helpful for my child's specific condition?,What respiratory support will my child need, and how should we prepare at home?,What developmental milestones should we realistically expect, and what therapies can help?,Are there any clinical trials or research studies my child might be eligible for?,What is the risk of this condition occurring again in future pregnancies?,What emergency warning signs should I watch for, and what is the emergency plan?
Common questions about Spinal muscular atrophy associated with central nervous system anomaly
What is Spinal muscular atrophy associated with central nervous system anomaly?
Spinal muscular atrophy associated with central nervous system anomaly is an extremely rare genetic condition that combines two major problems: weakness of the muscles controlled by the spinal cord (spinal muscular atrophy, or SMA) and abnormal development of the brain or spinal cord (central nervous system anomalies). In typical spinal muscular atrophy, the nerve cells in the spinal cord that control movement gradually break down, leading to progressive muscle weakness and wasting. In this particular form, there are additional brain or spinal cord structural problems that can cause intellectu
How is Spinal muscular atrophy associated with central nervous system anomaly inherited?
Spinal muscular atrophy associated with central nervous system anomaly follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spinal muscular atrophy associated with central nervous system anomaly typically begin?
Typical onset of Spinal muscular atrophy associated with central nervous system anomaly is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Spinal muscular atrophy associated with central nervous system anomaly?
1 specialists and care centers treating Spinal muscular atrophy associated with central nervous system anomaly are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.