Living with Hereditary spastic paraplegia 57
An extremely rare, complex type of hereditary spastic paraplegia starting in infancy, with severe leg stiffness and vision loss.
Understanding Hereditary spastic paraplegia 57
It brings marked leg stiffness that stops people from walking independently, reduced vision from optic atrophy (damage to the nerve of the eye), and wasting of the hands and feet due to a nerve condition that affects feeling and movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Unable to walk independently
- Optic nerve damage with reduced vision
- Wasting of the hands and feet
- Nerve damage affecting feeling and movement
- Trouble standing and climbing stairs
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 TFG 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 TFG 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 57; autosomal recessive spastic paraplegia type 57; hereditary spastic paraplegia caused by mutation in tfg; hereditary spastic paraplegia type 57; spastic paraplegia 57, autosomal recessive; spastic paraplegia due to partial tfg deficiency
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia 57 · 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 57.
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