Overview
Prenatal-onset spinal muscular atrophy with congenital bone fractures (sometimes called SMA-PCH or prenatal SMA with fractures) is a very rare and severe genetic condition that affects the nervous system and the skeleton before a baby is even born. It belongs to a group of diseases called spinal muscular atrophies, which cause the nerve cells in the spinal cord that control muscle movement to break down and stop working. Without these nerve signals, muscles become very weak and cannot develop properly. In this condition, the problems begin during pregnancy. The developing baby has extremely weak muscles, which means the bones do not get the normal mechanical stress they need to grow strong. As a result, babies are often born with multiple broken bones (called congenital fractures) alongside profound muscle weakness. The joints may be stiff and fixed in unusual positions, a condition known as arthrogryposis. Breathing muscles are also severely affected, making it very hard for newborns to breathe on their own. This disease is caused by changes (mutations) in specific genes that are essential for the survival and function of motor nerve cells. There is currently no cure, and the condition is typically life-limiting. Care focuses on keeping the baby as comfortable as possible, supporting breathing, and managing pain from fractures. Families benefit greatly from a team of specialists and strong palliative care support from the very beginning.
Key symptoms:
Extremely weak muscles present from before birthMultiple broken bones at birth (congenital fractures)Stiff, fixed joints in unusual positions (arthrogryposis)Very little or no movement felt by the mother during pregnancySevere difficulty breathing at birthVery low muscle tone (the baby feels 'floppy')Underdeveloped lungs due to weak breathing muscles in the wombFeeding difficultiesThin, underdeveloped muscles throughout the bodyCurved spine (scoliosis) may be present at birth
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 Prenatal-onset spinal muscular atrophy with congenital bone fractures.
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Specialists
View all specialists →No specialists are currently listed for Prenatal-onset spinal muscular atrophy with congenital bone fractures.
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 Prenatal-onset spinal muscular atrophy with congenital bone fractures.
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 gene mutation has been found in my child, and what does that mean for their prognosis?,Are there any clinical trials or research studies we should know about for this condition?,What level of breathing support is appropriate for our baby, and what are the options?,How do we safely handle and care for our baby to reduce the risk of new fractures?,What palliative care and family support services are available to us?,Should other family members be tested, and what are the chances of this happening in a future pregnancy?,Who else should be part of our care team, and how do we coordinate between specialists?
Common questions about Prenatal-onset spinal muscular atrophy with congenital bone fractures
What is Prenatal-onset spinal muscular atrophy with congenital bone fractures?
Prenatal-onset spinal muscular atrophy with congenital bone fractures (sometimes called SMA-PCH or prenatal SMA with fractures) is a very rare and severe genetic condition that affects the nervous system and the skeleton before a baby is even born. It belongs to a group of diseases called spinal muscular atrophies, which cause the nerve cells in the spinal cord that control muscle movement to break down and stop working. Without these nerve signals, muscles become very weak and cannot develop properly. In this condition, the problems begin during pregnancy. The developing baby has extremely w
How is Prenatal-onset spinal muscular atrophy with congenital bone fractures inherited?
Prenatal-onset spinal muscular atrophy with congenital bone fractures follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Prenatal-onset spinal muscular atrophy with congenital bone fractures typically begin?
Typical onset of Prenatal-onset spinal muscular atrophy with congenital bone fractures is neonatal. Age of onset can vary across affected individuals.