Living with Spastic paraplegia-severe developmental delay-epilepsy syndrome
A rare genetic condition starting in infancy with severe developmental delay, seizures and leg stiffness.
Understanding Spastic paraplegia-severe developmental delay-epilepsy syndrome
In infancy, children have developmental delay with severe intellectual disability and little speech. Seizures (mostly sudden muscle jerks) and low muscle tone are common. Leg stiffness slowly worsens and causes serious walking problems. Eye problems and bladder or bowel incontinence are often seen.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe developmental delay
- Seizures, mostly muscle jerks (myoclonic)
- Low muscle tone in the trunk
- Stiff legs and walking problems
- Delayed speech
- Eye problems
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 HACE1 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
Spastic Paraplegia Foundation and 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: Spastic Paraplegia Foundation, 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 Spastic Paraplegia Foundation 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 HACE1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: spastic paraplegia and psychomotor retardation with or without seizures; spastic paraplegia-psychomotor retardation-seizures syndrome; spprs syndrome
Patient organizations
- Spastic Paraplegia FoundationSpastic paraplegia-severe developmental delay-epilepsy syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Spastic paraplegia-severe developmental delay-epilepsy syndrome.
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