Living with Spastic paraplegia, optic atropy, and neuropathy
A rare inherited condition starting in infancy with stiff legs, vision loss from optic nerve damage and nerve damage.
Understanding Spastic paraplegia, optic atropy, and neuropathy
Leg stiffness starts in infancy and slowly worsens. People have optic nerve damage and involuntary eye movements. Nerve damage appears in late childhood or early adolescence, leading to severe motor disability, joint tightening (contractures) and scoliosis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spastic paraplegia)
- Optic nerve damage
- Nerve damage (neuropathy)
- Joint contractures
- Scoliosis
- High-arched feet
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in KLC2 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 The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Spastic Paraplegia Foundation, The Foundation for Peripheral Neuropathy
- 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 KLC2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: spastic paraplegia-optic atrophy-neuropathy syndrome; spastic paraplegia, optic atrophy, and neuropathy; spastic paraplegia, optic atrophy, neuropathy syndrome; spastic paraplegia, optic atropy, and neuropathy syndrome; spoan; spoan (spastic paraplegia, optic atrophy, neuropathy) syndrome
Patient organizations
- Spastic Paraplegia FoundationSpastic paraplegia, optic atropy, and neuropathy · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Spastic paraplegia, optic atropy, and neuropathy.
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