Living with Prenatal-onset spinal muscular atrophy with congenital bone fractures
A very rare genetic nerve and muscle condition that begins before birth, with reduced fetal movement, stiff joints and broken bones.
Understanding Prenatal-onset spinal muscular atrophy with congenital bone fractures
It starts during pregnancy with reduced or absent fetal movement. Babies are born with stiff, fixed joints (arthrogryposis) and multiple broken bones. Other features include breathing difficulty after birth, very low muscle tone, no reflexes, trouble swallowing, heart differences and distinctive facial features.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its description mentions these:
- Reduced fetal movement
- Stiff, fixed joints from birth
- Broken bones present at birth
- Breathing difficulty after birth
- Very low muscle tone
- Trouble swallowing
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: smabf; spinal muscular atrophy with congenital bone fractures
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Prenatal-onset spinal muscular atrophy with congenital bone fractures.
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