Living with Infantile-onset X-linked spinal muscular atrophy
A genetic condition that affects only boys, with severe muscle weakness and stiff joints from birth.
Understanding Infantile-onset X-linked spinal muscular atrophy
Many children have joint contractures from birth that cause stiffness and limit movement. In severe cases, babies are born with broken bones. Weakness worsens over time. Children may reach early milestones like sitting alone, then lose them. Weak chest muscles can cause breathing problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe muscle weakness
- Absent reflexes
- Stiff, bent joints from birth (arthrogryposis)
- Broken bones
- Breathing difficulties
- Small chin, spine curvature, and undescended testes
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in UBA1 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
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- 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 The Foundation for Peripheral Neuropathy 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
Changes in the UBA1 gene cause this condition. It is inherited in an X-linked pattern, meaning the gene is on the X chromosome, which is why it affects boys.
Also known as: amc, distal, x-linked; arthrogryposis, x-linked, type i; smax2; spinal muscular atrophy with arthrogryposis; spinal muscular atrophy, x-linked 2; spinal muscular atrophy, x-linked 2, infantile, x-linked recessive
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile-onset X-linked spinal muscular atrophy.
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