Living with Hereditary spastic paraplegia 42
A pure type of hereditary spastic paraplegia with slowly worsening leg stiffness, from childhood to adulthood.
Understanding Hereditary spastic paraplegia 42
People have a spastic walk, brisk reflexes in the legs, and weakness and wasting of the leg muscles. High arches are seen rarely. GARD says MRI shows no abnormalities. It can start from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Spastic walk
- Brisk reflexes in the legs
- Leg weakness
- Wasting of leg muscles
- Reduced vibration sense in the legs
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 SLC33A1 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 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
- 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
- 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 SLC33A1 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: autosomal dominant pure spastic paraplegia caused by mutation in slc33a1; autosomal dominant spastic paraplegia 42; autosomal dominant spastic paraplegia type 42; hereditary spastic paraplegia type 42; slc33a1 autosomal dominant pure spastic paraplegia; spastic paraplegia 42
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary spastic paraplegia 42.
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