Living with Hereditary spastic paraplegia 18
A rare, complex type of hereditary spastic paraplegia starting in early childhood, with joint stiffness and intellectual disability.
Understanding Hereditary spastic paraplegia 18
It causes worsening leg stiffness, delayed motor skills, severe intellectual disability, and joint contractures (joints that cannot straighten). A thin corpus callosum is seen on brain MRI. It starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff muscles (spasticity)
- Delayed development
- Intellectual disability
- Absent speech
- Joint contractures
- Unable to walk
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 ERLIN2 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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
It is caused by changes in the ERLIN2 gene. It can be autosomal dominant or autosomal recessive.
Also known as: autosomal recessive complex spastic paraplegia caused by mutation in erlin2; autosomal recessive spastic paraplegia 18; autosomal recessive spastic paraplegia type 18; erlin2 autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 18; intellectual disability, motor dysfunction and joint contractures
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
Broader rare-disease groups
- 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 Hereditary spastic paraplegia 18.
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