Living with Spastic paraplegia, intellectual disability, nystagmus, and obesity
A rare genetic nervous system condition with stiff legs, learning challenges, eye movement differences and weight gain.
Understanding Spastic paraplegia, intellectual disability, nystagmus, and obesity
People have stiffness in the legs (spastic paraplegia) from early life, global developmental delay and intellectual disability. Eye differences include involuntary eye movements (nystagmus), reduced sharpness of vision and farsightedness. Obesity and a flattened skull shape are also noted. Brain imaging may show enlarged fluid spaces and differences in myelin.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spastic paraplegia)
- Intellectual disability
- Delayed motor skills
- Involuntary eye movements (nystagmus)
- Farsightedness
- Obesity
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 hormone specialists.
- 3Consider genetic testing
Changes in KIDINS220 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); Hormone specialists (endocrinologists)
- 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 lists changes in the KIDINS220 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: sino syndrome; spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; spastic paraplegia, intellectual disability, nystagmus, and obesity; spastic paraplegia, intellectual disability, nystagmus, obesity syndrome
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 Spastic paraplegia, intellectual disability, nystagmus, and obesity.
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