Living with Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
A rare genetic condition of newborns and infants that affects the brain, causing delayed development, a small head and stiff muscles.
Understanding Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
It is caused by a lack of an amino acid called serine in the body. Signs include delayed development, a small head, intellectual disability, stiff and tight arms and legs, and seizures. Brain MRI shows a thin corpus callosum, delayed myelination and brain shrinkage. Behavior issues, unusual hand movements and repeated behaviors may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Small head (microcephaly)
- Stiff, tight muscles (spasticity)
- Seizures
- Intellectual disability
- Trouble swallowing
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 SLC1A4 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
GARD lists changes in the SLC1A4 gene, which lead to a lack of serine. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: asct1 deficiency; spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome; spastic tetraplegia, thin corpus callosum, and progressive microcephaly; spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
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 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome.
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