Living with Fetal akinesia-cerebral and retinal hemorrhage syndrome
A rare condition affecting muscles before and at birth, with little movement in the womb, weak muscles, stiff joints and bleeding in the brain and eyes.
Understanding Fetal akinesia-cerebral and retinal hemorrhage syndrome
Babies move less than usual in the womb, and there may be extra amniotic fluid. After birth they have very low muscle tone with breathing problems, absent reflexes, and stiff joints (contractures). Thin ribs and bones, bleeding in the brain or the eyes, and low birth weight can also occur.
Signs & symptoms
Symptoms vary from baby to baby. GARD lists these among the most common:
- Little movement in the womb
- Extra amniotic fluid (polyhydramnios)
- Very low muscle tone (hypotonia)
- Breathing problems
- Stiff joints (contractures)
- Bleeding in the eyes or brain
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 DNM2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
Changes in the DNM2 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fetal akinesia, cerebral and retinal hemorrhage syndrome; lccs5; lethal congenital contracture syndrome 5; lethal congenital contracture syndrome type 5; myopathy, centronuclear, lethal, autosomal recessive
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 Fetal akinesia-cerebral and retinal hemorrhage syndrome.
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