Living with Amyelia
A rare condition present from birth in which the spinal cord is missing, usually along with differences in the spine bones.
Understanding Amyelia
It is usually seen with differences in the bones of the spine. Nerve problems depend on which segments are affected and how well the remaining spinal cord works. Typically, the spinal cord looks normal above the defect and bulky, thick, and low-lying below it. It is present in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary says people have:
- Muscle weakness, with differences in the lower limbs
- Bladder control problems from nerve damage
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 doesn't describe a cause for this condition yet.
Also known as: absent spinal cord; amyelia (congenital absence of spinal cord); isolated amyelia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Amyelia.
Explore research for Amyelia
Explore actively recruiting Amyelia studies with HealthSpark.
Find actively recruiting studies for Amyelia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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