Living with Multiple congenital anomalies-hypotonia-seizures syndrome 1
A rare genetic syndrome with low muscle tone, seizures, delayed development, and differences present from birth, linked to the PIGN gene.
Understanding Multiple congenital anomalies-hypotonia-seizures syndrome 1
GARD describes it as a multiple congenital anomalies syndrome with intellectual disability. Features include severely low muscle tone, seizures, severe global developmental delay, and feeding difficulties in infancy. Other features include coarse facial features, a large head at birth, eye movement problems, and delayed myelination (the coating on nerves). Signs are seen during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severely low muscle tone (hypotonia)
- Seizures
- Severe developmental delay
- Feeding difficulties and acid reflux
- Rapid eye movements (nystagmus) and eyes that turn
- Coarse facial features
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PIGN 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); 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 CDG & Allies - PPAIN
- 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
This syndrome is caused by changes in the PIGN gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: congenital disorder of glycosylation due to pign deficiency; glycosylphosphatidylinositol biosynthesis defect 3; inherited gpi anchor-deficiency; mcahs1; multiple congenital anomalies-hypotonia-seizures syndrome type 1; multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in pign
Patient organizations
- CDG & Allies - PPAINMultiple congenital anomalies-hypotonia-seizures syndrome 1 · Epilepsy Foundation
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