Living with Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
A rare genetic condition starting in infancy with a small head, severe developmental delay, cataracts, seizures, and feeding difficulties.
Understanding Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
People have a small head, very significant developmental delay, intellectual disability, cataracts in both eyes, severe epilepsy including infantile spasms, low muscle tone, irritability, and feeding trouble that leads to poor weight gain. They may make repeated hand movements. Brain imaging shows delayed myelination (the protective coating on nerves) and loss of brain tissue.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Seizures
- Low muscle tone (floppy infant)
- Feeding difficulties and poor weight gain
- Profound intellectual disability
- Hand-wringing movements
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in NACC1 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
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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 Organization for Autism Research 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
GARD lists changes in the NACC1 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: necfm; severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
Patient organizations
- Organization for Autism ResearchNeurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination · United States
- Epilepsy FoundationEpilepsy · United States
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