Living with Hereditary spastic paraplegia 74
A rare type of hereditary spastic paraplegia starting in childhood, with leg stiffness, nerve damage, and vision loss.
Understanding Hereditary spastic paraplegia 74
It starts in childhood with mild to moderate leg stiffness and a changed walk that progresses very slowly into late adulthood. It comes with optic atrophy (damage to the eye's nerve) and peripheral neuropathy, including reduced ankle reflexes, wasting of the leg muscles, and reduced feeling. Reduced vision and high arches are often reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Changed walk
- Weakness and wasting in the lower legs
- Reduced feeling in the feet
- High-arched feet (pes cavus)
- Reduced vision or loss of part of the field of vision
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 IBA57 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
It is caused by changes in the IBA57 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive spastic paraplegia 74; autosomal recessive spastic paraplegia type 74; hereditary spastic paraplegia caused by mutation in iba57; hereditary spastic paraplegia type 74; iba57 hereditary spastic paraplegia; spastic paraplegia 74, autosomal recessive
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia 74 · 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 Hereditary spastic paraplegia 74.
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