Living with Spinal muscular atrophy, type II
A genetic nerve and muscle condition in which babies can sit but not stand or walk on their own.
Understanding Spinal muscular atrophy, type II
Babies with SMA2 can sit without support, but they can't stand or walk on their own. Feeding and breathing problems may also develop. It starts in infancy. Diagnosis is suspected from symptoms and confirmed by genetic testing.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, features include:
- Can sit without support
- Can't stand or walk independently
- Muscle weakness
- Feeding problems
- Breathing problems
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SMN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- 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 Cure SMA and other patient organizations
- 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 SMN1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: chronic infantile spinal muscular atrophy; chronic spinal muscular atrophy; intermediate spinal muscular atrophy; late infantile spinal muscular atrophy; muscular atrophy, spinal, infantile chronic form; muscular atrophy, spinal, intermediate type
Patient organizations
- Cure SMASpinal muscular atrophy, type II · United States
- Muscular Dystrophy AssociationSpinal muscular atrophy, type II · United States
- Gwendolyn Strong FoundationSpinal muscular atrophy, type II · United States
You are more than your diagnosis
Perspectives from people navigating life with Spinal muscular atrophy, type II.
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