Living with Constitutional megaloblastic anemia with severe neurologic disease
A rare inherited metabolic condition that causes a type of anemia and brain symptoms ranging from none to severe.
Understanding Constitutional megaloblastic anemia with severe neurologic disease
Megaloblastic anemia means red blood cells are large and too few. Brain symptoms range from severe developmental delay and seizures in infancy, to absence seizures with learning difficulties in childhood, to no symptoms. It starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Megaloblastic anemia
- Absence seizures (brief staring spells)
- Global developmental delay
- Low muscle tone (hypotonia)
- Balance problems (ataxia)
- Feeding difficulties
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 blood and bone marrow specialists, brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in DHFR 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy Foundation
- 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
It is caused by changes in the DHFR gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dhfr deficiency; dihydrofolate reductase deficiency; megaloblastic anemia due to dihydrofolate reductase deficiency
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Constitutional megaloblastic anemia with severe neurologic disease.
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