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🔗 CustomizeMedical Overview of Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures
Sources citedA rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.
Classification & codes: GARD 0017882 · Orphanet ORPHA:486811 · OMIM 616866 · ICD-10 G12.8
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
ALYFTREK shows positive Phase 3 results in children ages 2–5
Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.
Airway clearance routines that actually work for teens
3 open trials match this profile
Locations in NC, FL and GA.
Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures Family Conference
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Care & management overview — Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures
Educational programming; see the cited sources on this hub.
Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures News & Developments
The latest Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.
Recruiting trials
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Treatment & Daily Living
Medical care plus the everyday therapies and supports relevant to Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →
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Plain-language guidance for the people around someone with Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.
Companies Developing Treatments
Biopharma companies with registered trials for Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Researchers Publishing on Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures
20Research Collaboration & Matching
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Mental Health Toolkit
Sources citedCoping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures — for patients and caregivers alike.
Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
Grand Rounds & Accredited Education
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For caregivers and family navigating Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures.
Recent From the Community
Certified Centers of Excellence
CFF networkCare centers and specialists for Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures, from Tomeko’s verified provider directory (CMS NPPES).
Representative CFF centers — the official CFF directory has the complete, current list.
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Patient & Family Guides
Sources citedAn annual snapshot of Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures research, treatment access and outcomes, written in plain language for patients and families.
Practical starting points and things to plan for in the first year after diagnosis.
Step-by-step guidance, what to expect, and a sample daily routine.
Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with SMABF.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.