Get More Help in OHSpinal Muscular Atrophy (SMA)
Guidance for primary care clinicians receiving a positive newborn screen result
Description
Spinal muscular atrophy (SMA) is a group of inherited conditions that affects the motor neurons of the spinal cord causing muscle weakness. Symptoms include difficulty crawling, walking, breathing, swallowing, and controlling the head and neck. There are several types of SMA; classification is based on the severity of the condition and the age at which symptoms begin. Early detection and treatment are most effective when started early.
The long-term outlook varies significantly based on the type, symptoms, and response to treatment. The more severe types of SMA are associated with a shortened lifespan. Newer therapies may improve survival. In general, infants with SMA type I die in early childhood. Those affected by SMA type II live into adolescence and early adulthood. Most people with type III have a normal lifespan but are more susceptible to respiratory infections. SMA type IV is associated with a normal life expectancy.
Primary Care Management
Next Steps After a Positive Screen
- Contact family regarding the need for evaluation and additional testing.
Confirming the Diagnosis
- To confirm the diagnosis of 3MCC deficiency, work with Newborn Screening Services (see OH providers [1]) and Pediatric Neurology (see OH providers [0]).
- URGENT evaluation and additional testing are needed: FDA-approved treatments are available and should be started within days of identification.
- Follow-up testing includes SMN1 and SMN2 genetic testing. Other testing may be needed prior to starting treatment.
Resources
Information & Support
Related Portal Content
Spinal Muscular Atrophy
Assessment and management information for the primary care
clinician caring for the child with spinal muscular atrophy.
Spinal Muscular Atrophy (FAQ)
Answers to questions families often have about caring for their
child with spinal muscular atrophy.
After a Diagnosis or Problem is Identified
Families can face a big change when their baby tests positive for
a newborn condition. Find information about A New Diagnosis - You Are Not Alone;
Caring for Children with Special Health Care Needs; Assistance in Choosing
Providers; Partnering with Healthcare Providers; Top Ten Things to Do After a
Diagnosis.
For Professionals
Spinal Muscular Atrophy (GeneReviews)
An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information;
U.S. National Library of Medicine.
Spinal Muscular Atrophy Type I (OMIM)
Information about clinical features, diagnosis, management, and molecular and population genetics; Online Mendelian Inheritance
in Man, authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Spinal Muscular Atrophy Type II (OMIM)
Information about clinical features, diagnosis, management, and molecular and population genetics; Online Mendelian Inheritance
in Man, authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Spinal Muscular Atrophy Type III (OMIM)
Information about clinical features, diagnosis, management, and molecular and population genetics; Online Mendelian Inheritance
in Man, authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
For Parents and Patients
Genetic Conditions: Spinal Muscular Atrophy (MedlinePlus)
Excellent, detailed review of condition for patients and families; National Library of Medicine and National Institutes of
Health.
Baby's First Test (Genetic Alliance)
Clearinghouse for local, state, and national newborn screening education, programs, policies, and resources. Also, provides
many ways for people to connect and share their viewpoints and questions about newborn screening, supported by the U.S. Department
of Health and Human Services.
Tools
ACT Sheet for Spinal Muscular Atrophy (ACMG) (
157 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical
Genetics.
Services for Patients & Families in Ohio (OH)
| Service Categories | # of providers* in: | OH | NW | Other states (4) (show) | | NM | NV | RI | UT |
|---|---|---|---|---|---|---|---|---|---|
| Medical Genetics | 1 | 2 | 5 | 4 | 7 | ||||
| Newborn Screening Services | 1 | 3 | 2 | 2 | 3 | ||||
| Pediatric Neurology | 5 | 5 | 18 | 8 | |||||
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Page Bibliography
Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochmüller H.
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.
Orphanet J Rare Dis.
2017;12(1):124.
PubMed abstract / Full Text