Living with Amyotonia congenita
A rare infant muscle condition with very low muscle tone from birth, so the baby looks weak or unable to move some body parts.
Understanding Amyotonia congenita
GARD describes it as congenital atonic pseudoparalysis. From birth, the baby appears weak or unable to move some parts of the body, even though the nerves and muscles are present.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes very low muscle tone from birth.
- Very low muscle tone from birth
- Weakness or trouble moving some body parts
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 lists autosomal recessive inheritance, so a child inherits a changed copy of a gene from each parent. It doesn't name a gene.
Also known as: benign congenital hypotonia; congenital atonic pseudoparalysis; oppenheim disease; oppenheim's amyotonia; oppenheim's disease
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 Amyotonia congenita.
Explore research for Amyotonia congenita
Explore actively recruiting Amyotonia congenita studies with HealthSpark.
Find actively recruiting studies for Amyotonia congenita 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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