Living with Hereditary spastic paraplegia 17
A type of hereditary spastic paraplegia caused by changes in the BSCL2 gene, with weak hands and feet and stiff legs.
Understanding Hereditary spastic paraplegia 17
It can include wasting of the hand muscles, foot weakness (foot drop), brisk reflexes, and a spastic walk. It starts from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spastic walk
- Foot drop
- Wasting of the hand muscles
- Brisk reflexes
- Differences in foot muscles
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 and genetic specialists.
- 3Consider genetic testing
Changes in BSCL2 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); 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 BSCL2 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: autosomal dominant spastic paraplegia 17; autosomal dominant spastic paraplegia type 17; bscl2 hereditary spastic paraplegia; dhmn5b; distal hereditary motor neuropathy type 5b; hereditary spastic paraplegia caused by mutation in bscl2
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia 17 · 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 17.
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