Living with Spinal muscular atrophy with congenital bone fractures 1
A severe genetic nerve and muscle condition with low muscle tone and broken bones before birth.
Understanding Spinal muscular atrophy with congenital bone fractures 1
Babies have low muscle tone and move less during pregnancy. Some have broken bones before they are born. These problems can make it hard for babies to eat and breathe. Other features include tight joints, heart muscle disease, and underdeveloped lungs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone and muscle weakness
- Less movement before birth
- Broken bones present at birth
- Tight, fixed joints (arthrogryposis)
- Breathing and swallowing difficulty
- Heart muscle disease
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 it is caused by changes in the TRIP4 gene on chromosome 15q22. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in trip4; sma1 with congenital bone fractures; smabf1; spinal muscular atrophy with congenital bone fractures type 1; spinal muscular atrophy, type i, with congenital bone fractures; trip4 prenatal-onset 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
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