Living with Hereditary spastic paraplegia 7
A condition with leg stiffness and poor balance, which can also affect vision, nerves, and thinking, usually starting in adulthood.
Understanding Hereditary spastic paraplegia 7
It usually starts in adulthood, but can start in infancy or as late as age 72. It often begins with slowly worsening leg weakness and stiffness or with balance, speech, and swallowing trouble. Other findings can include reduced vision from optic nerve damage, thinking changes, dystonia, nerve damage, high arches, and scoliosis. Stiffness and ataxia are progressive and may lead to needing a wheelchair.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, weak legs (spasticity)
- Spastic walk
- Poor balance (cerebellar ataxia)
- Slow, slurred speech
- Optic nerve damage
- Urinary urgency
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 SPG7 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, National Ataxia Foundation and United Mitochondrial Disease Foundation 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, National Ataxia Foundation, United Mitochondrial Disease 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 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 SPG7 gene. It can be autosomal dominant, autosomal recessive, or mitochondrial in how it is passed on.
Also known as: autosomal recessive spastic paraplegia 7; autosomal recessive spastic paraplegia type 7; hereditary spastic paraplegia caused by mutation in spg7; hereditary spastic paraplegia paraplegin type; hereditary spastic paraplegia type 7; spastic paraplegia 7
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia 7 · United States
- National Ataxia FoundationAtaxia · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary spastic paraplegia 7.
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