Living with Spastic paraplegia-epilepsy-intellectual disability syndrome
A rare condition that affects the brain and nervous system because of problems moving glucose into the brain, causing seizures and developmental delay.
Understanding Spastic paraplegia-epilepsy-intellectual disability syndrome
In babies, frequent seizures usually start in the first months of life, and some newborns have fast, irregular eye movements. Head growth can slow, leading to a small head. Many people have developmental delay or intellectual disability, stiff muscles, poor balance and coordination, and speech trouble. Some have episodes of confusion, headaches or brief muscle jerks, especially when they haven't eaten recently. A smaller group has no seizures but still has learning or movement problems.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, symptoms include:
- Seizures starting in infancy
- Developmental delay or intellectual disability
- Stiff muscles
- Poor balance and coordination
- Speech trouble
- Small head (microcephaly)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Spastic Paraplegia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Spastic Paraplegia 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 Spastic Paraplegia 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
GARD says it is linked to problems in how the body transports glucose into the brain. It is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: spastic paraplegia, epilepsy, and impaired intellectual development; spemr
Patient organizations
- Spastic Paraplegia FoundationSpastic paraplegia-epilepsy-intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Spastic paraplegia-epilepsy-intellectual disability syndrome.
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