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spinal muscular atrophy with congenital bone fractures 1 - Clinical Profile, Treatments & Trials | Kisho | Kisho

Features include always present findings: Severe muscular hypotonia, Muscle fiber atrophy, Muscle weakness, and Difficulty swallowing (dysphagia) and others; and common findings: Pulmonary hypoplasia, Narrow mouth, Hypertelorism, and High palate and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8	Flexion contracture, Severe muscular hypotonia, Muscle fiber atrophy
Brain and nerves	3	Peripheral axonal neuropathy, Difficulty swallowing (dysphagia), Global developmental delay
Heart and blood vessels	3	Secundum atrial septal defect, Congestive heart failure, Heart muscle disease (cardiomyopathy)
Lungs and breathing	2	Pulmonary hypoplasia, Neonatal respiratory distress
Pregnancy and birth	2	Decreased fetal movement, Neonatal respiratory distress
Head and neck	1	High palate
Digestive system	1	Difficulty swallowing (dysphagia)
Skin	1	Decreased sweating (hypohidrosis)
Bones and joints	1	Multiple prenatal fractures

Age of onset: before birth, at birth.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

3 FDA-approved treatments are available for spinal muscular atrophy with congenital bone fractures 1, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status
EVRYSDI	RISDIPLAM	—	2020	Available
Zolgensma	onasemnogene abeparvovec-xioi	—	2019	Available
SPINRAZA	NUSINERSEN	—	2016	Available

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spinal muscular atrophy with congenital bone fractures 1

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spinal muscular atrophy with congenital bone fractures 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Treatment

Approved Therapies

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team