Living with Hereditary spastic paraplegia 2
A rare X-linked condition affecting the brain's white matter, causing a spastic walk and automatic-function problems.
Understanding Hereditary spastic paraplegia 2
Autonomic means automatic body functions, such as bladder and bowel control. When other nervous system signs such as intellectual disability, poor balance, or movement changes occur, it is called complicated SPG. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spastic walk
- Stiff muscles (spasticity)
- Muscle weakness
- Brisk reflexes
- Bladder and bowel control problems
- Optic nerve damage
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 PLP1 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
Pelizaeus-Merzbacher Disease Foundation, Spastic Paraplegia Foundation and United Leukodystrophy 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: Pelizaeus-Merzbacher Disease Foundation, Spastic Paraplegia Foundation, United Leukodystrophy 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 Pelizaeus-Merzbacher Disease 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 PLP1 gene. It is X-linked, meaning the gene is on the X chromosome.
Also known as: hereditary spastic paraplegia caused by mutation in plp1; hereditary spastic paraplegia type 2; plp1 hereditary spastic paraplegia; spastic gait type 2; spastic paraparesis type 2; spastic paraplegia 2, x-linked
Patient organizations
- Pelizaeus-Merzbacher Disease FoundationHereditary spastic paraplegia 2 · United States
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary spastic paraplegia 2.
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